• <em>TCOF1</em> Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery
• A case of Antley-Bixler syndrome caused by novel POR mutations
• A case of Rubinstein-Taybi syndrome caused by a variant of EP300 gene
• A clinical characteristics and genetic analysis of a case of Rubinstein-Taybi syndrome with glaucoma
• A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia
• A dominant vimentin variant causes a rare syndrome with premature aging
• A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome
• A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency
• A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin
• A novel mutation of GLI3 gene underlying synpolydactyly in a family
• A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome
• A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient
• A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia
• A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features
• A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B
• A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report
• A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
• A trans-acting protein effect causes severe eye malformation in the Mp mouse
• Acrodysostosis and spinal canal involvement
• Acrodysostosis associated with hypercalcemia
• Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome
• An assessment of 2 objective measurements of web space position
• An infant with premature closure of cranial sutures due to variant of ERF gene and a literature review
• An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome
• An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns
• Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome
• Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome
• Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1
• Anesthetic Implications in a Child with Crouzon Syndrome
• Autonomic and cardiorespiratory responses to the active tilt test in individuals with Parkinson disease: cross-sectional study
• Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment
• Avulsive axillary artery injury in reverse total shoulder arthroplasty
• Big Data and Machine Learning in Plastic Surgery: A New Frontier in Surgical Innovation
• Bioinformatics Analysis and Experimental Verification Identify Downregulation of COL27A1 in Poor Segmental Congenital Scoliosis
• C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients
• Cervical Rib Synostosis to the First Rib: A Rare Anatomic Variation
• Clinical and genetic analysis of two cases with Rubinstein-Taybi syndrome
• Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome
• Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family
• Clinical phenotype, genetic characteristics, and creation of immortalized cell lines for patients from a pedigree affected with Hunter syndrome
• Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease
• Craniofacial and Neurological Phenotype in a Case of Oculodentodigital Syndrome
• Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities
• Diploid/triploid mosaicism: a variable but characteristic phenotype
• DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
• Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly
• Elevated circulating Sclerostin concentrations in individuals with high bone mass, with and without LRP5 mutations
• Emissary veins and pericerebral cerebrospinal fluid in trigonocephaly: do they define a specific subtype?
• Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China
• FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome
• FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome
• Focal Dermal Hypoplasia with Osteopathia Striata
• Generation of a human induced pluripotent stem cell line (PSHi002-A) from a Treacher-Collins syndrome patient carrying a TCOF1 gene mutation (c.1966_1969dup)
• Genetic analysis of a child with acrodysostosis type 2
• Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation
• Genetic study of a pedigree affected with oculodentodigital dysplasia
• Goltz syndrome and PORCN mosaicism
• Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family
• Histopathologic and immunohistochemical features of soft palate muscles and nerves in dogs with an elongated soft palate
• Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing
• Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly
• Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis
• Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family
• Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia
• Influence of trigeminal nerve lesion on facial growth: study of two cases of Goldenhar syndrome
• Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report
• iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability
• Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review
• Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis
• Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report
• Lipodermoid Cyst: A Report of a Rare Caruncular Case
• Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
• Lower Extremity Reconstruction in the Pediatric Population
• Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS
• Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
• Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome
• Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome
• Mongolian spots in GM1 gangliosidosis: a pictorial report
• Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia
• Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome
• Neurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities
• Nonsyndromic craniosynostosis: the Rady Children's Hospital approach
• Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients
• Novel mutations of the PRKAR1A gene in patients with acrodysostosis
• Nummular headache in a patient with craniosynostosis: one more evidence for a peripheral mechanism
• Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome
• Partial tetrasomy 14 associated with multiple malformations
• Population pharmacokinetics of tranexamic acid in paediatric patients undergoing craniosynostosis surgery
• Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review
• Prenatal diagnosis of a fetus with Rubinstein-Taybi syndrome
• Radicular claudication revealing possible acrodysostosis: A case report
• Respiratory impairment in a patient with acrodysostosis: A rare association of an uncommon pathology
• Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly
• Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis
• Subcutaneous pedicle V-Y flap for release of incomplete congenital syndactyly
• Surgical Treatment and Outcomes of Syndactyly: A Systematic Review
• The Adipofascial Radial Artery Perforator Flap: A Versatile Reconstructive Option in Upper Limb Surgery
• The Rare Presence of an Asymptomatic Os Sustentaculum in a Young Athlete
• Upper Limb Ischaemia Caused by Cleidocranial Dysostosis
• Utilization of the web index in the measurement of web creep after syndactyly surgery