• 2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3
• A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum
• A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E
• A misplaced lncRNA causes brachydactyly in humans
• A new acro-osteolysis syndrome caused by duplications including PTHLH
• A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature
• 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 PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
• A single residue of GDF-5 defines binding specificity to BMP receptor IB
• ADAM19 cleaves the PTH receptor and associates with brachydactyly type E
• Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1
• An update on the clinical and molecular characteristics of pseudohypoparathyroidism
• Arterial hypertension with brachydactyly in a 15-year-old boy
• Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12
• Brachydactyly E: isolated or as a feature of a syndrome
• Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients
• Brachydactyly type E in an Italian family with 6p25 trisomy
• Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?
• Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the <em>IHH</em> Gene
• Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene
• Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
• Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly
• Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha
• Concomitance of types D and E brachydactyly: a case report
• Deletion and point mutations of PTHLH cause brachydactyly type E
• Dietary exposure and risk assessment of polybrominated diphenyl ethers in the Republic of Korea: A nationwide study
• Does brachydactyly have a protective effect on the erosive changes in rheumatoid arthritis?
• Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome
• Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia
• Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature
• Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement
• Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene
• Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion
• Genetic "lnc"-age of noncoding RNAs to human disease
• Genetics and arterial hypertension: monogenic forms
• Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor
• Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
• Glypican 1 gene: good candidate for brachydactyly type E
• GNAS mutations and heterotopic ossification
• Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance
• Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems
• Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals
• HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype
• Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature
• Hypertension linked to PDE3A activation
• Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders
• Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia
• IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy
• Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients
• Is brachydactyly type Ballard a variant of brachydactyly type E?
• Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic
• Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report
• KBG syndrome presenting with brachydactyly type E
• Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
• Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene
• Madelung-like deformity in pseudohypoparathyroidism type 1b
• Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E
• Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities
• Monogenic hypertension
• Multiple miliary osteoma cutis of the face associated with Albright hereditary osteodystrophy in the setting of acne vulgaris: a case report
• Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage
• Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3
• Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome
• Mutations in Phosphodiesterase 3A (<em>PDE3A</em>) Cause Hypertension Without Cardiac Damage
• New Developments in the Genetics of Hypertension: What Should Clinicians Know?
• Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal
• Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
• Novel mutations of the PRKAR1A gene in patients with acrodysostosis
• Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
• Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria
• Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3
• Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature
• PDE3A mutations cause autosomal dominant hypertension with brachydactyly
• 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
• Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4
• Phosphodiesterase 3A and Arterial Hypertension
• Prevalence of minor musculoskeletal anomalies in children with congenital hypothyroidism
• 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
• Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations
• Report of a Brazilian patient with Wolfram Syndrome
• Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review
• Reversal of cardiac and renal damage in a teenager with hypertension: A case report
• Roles of A-Kinase Anchoring Proteins and Phosphodiesterases in the Cardiovascular System
• Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain
• Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism
• Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects
• Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1
• Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH
• Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: a new syndrome?
• The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature
• The molecular basis of hypertension
• The p.R56* mutation in PTHLH causes variable brachydactyly type E
• The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice
• Three cases of brachydactyly type E from two commingled tombs at the Late Intermediate period - Late Horizon site of Marcajirca, Ancash, Peru
• Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation
• Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome
• 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
• 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