• (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I
• A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2)
• A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review
• A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation
• A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods
• A novel <em>NPR2</em> mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux
• A Novel <em>PCNT</em> Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)
• A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family
• A novel mutation in <em>COL1A2</em> leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly
• A novel mutation in <em>PTHLH</em> in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
• A novel mutation in a case of pseudohypoparathyroidism type Ia
• A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum
• A Novel Mutation in the <em>ADAMTS10</em> Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart
• A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder
• A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features
• A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2
• A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia
• A novel variant in the ROR2 gene underlying brachydactyly type B: a case report
• A novel variant of IHH in a Chinese family with brachydactyly type 1
• A PDE3A mutation in familial hypertension and brachydactyly syndrome
• Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis
• Biallelic cGMP-dependent type II protein kinase gene (<em>PRKG2</em>) variants cause a novel acromesomelic dysplasia
• BMP antagonists in tissue development and disease
• BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype
• Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family
• Brachydactyly type C
• Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1
• Brachydactyly type C due to a nonsense mutation in the GDF5 gene
• Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?
• Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families
• Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the <em>IHH</em> Gene
• Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family
• Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5
• Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population
• Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome
• Clinical spectrum of male patients with OFD1 mutations
• Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1
• Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone
• DNA methylation analysis reveals epimutation hotspots in patients with dilated cardiomyopathy-associated laminopathies
• Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant
• Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report
• Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
• Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W)
• Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome
• First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature
• Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene
• Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report
• Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis
• Further evidence of POP1 mutations as the cause of anauxetic dysplasia
• GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations
• Genetic analysis of a child with acrodysostosis type 2
• Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption
• Genetics of limb development and congenital hand malformations
• Genetics, Clinical Presentation, Radiological Features, and Midterm Outcome of Closing Wedge Osteotomy in Children With Brachydactyly Type C
• Grebe dysplasia and the spectrum of CDMP1 mutations
• Homozygous <em>CHST11</em> mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly
• Hypercalcitoninaemia in pseudohypo-parathyroidism type 1A and type 1B
• Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation
• Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement
• Identification of a Novel <em>IQCE</em> Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7
• Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report
• Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
• Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders
• Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation
• Intrafamilial clinical variability in type C brachydactyly
• Intrafamilial variability in six family members with ERF-related craniosynostosis syndrome type 4
• Lenz-Majewski syndrome in a patient from Egypt
• Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
• Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2
• Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C
• Molecular genetic analysis and growth hormone treatment in a three-generation Chinese family with Tricho-rhino-phalangeal syndrome I
• Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage
• Mutation analysis of a pedigree affected with brachydactyly type E2 and obesity
• Mutations in CDMP1 cause autosomal dominant brachydactyly type C
• Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2
• Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family
• Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism
• Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria
• PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features
• Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase
• Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation
• Phosphodiesterase 3A and Arterial Hypertension
• Pseudohypoparathyroidism Type 1A with Normocalcaemia, due to the Novel C.389A&amp;gt;G Variant of Exon 5 of the Guanine Nucleotide-Binding Protein, α-Stimulating Gene
• Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases
• Pseudohypoparathyroidism-A Rare Cause of Seizures in a Young Male
• Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report
• Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III
• Severe aplastic anaemia in a child with brachydactyly type C
• Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain
• Severe Form of Brachydactyly Type A1 in a Child with a c.298G &gt; A Mutation in <em>IHH</em> Gene
• Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report
• The mutational spectrum of brachydactyly type C
• Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation
• Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C
• Uncommon bone abnormality: non-syndromic brachydactyly type C
• Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene
• Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation
• What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
• Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report
• Whole-exome sequencing identifies a novel <em>IHH</em> insertion in an Ontario family with brachydactyly type A1