• A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome
• A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
• A Novel Missense Variant of <em>HOXD13</em> Caused Atypical Synpolydactyly by Impairing the Downstream Gene Expression and Literature Review for Genotype-Phenotype Correlations
• A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report
• Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case
• Bilateral Clinodactyly of the Index and Middle Fingers Because of Proximal Delta Phalanx
• Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family
• Brachydactyly Type A3 Is More Commonly Seen in Children With Short Stature But Does Not Affect Their Height Improvement by Growth Hormone Therapy
• Christian's spondylo-digital syndrome: second familial case
• Cleft hand in Kabuki make-up syndrome: case report
• Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH
• Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome
• De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features
• ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities
• Evaluation of qualitative methods for phenotyping brachymesophalangia-V from radiographs of children
• Extremity anomalies associated with Robinow syndrome
• Floating-Harbor Syndrome
• Genetics, Clinical Presentation, Radiological Features, and Midterm Outcome of Closing Wedge Osteotomy in Children With Brachydactyly Type C
• Genotype-Phenotype Correlation of Distal 2q37 Deletions
• Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal
• Muenke Syndrome
• Natural history of KBG syndrome in a large European cohort
• New type of epidermal nevus syndrome
• Oral-Facial-Digital Syndrome Type I
• Phylloid hypomelanosis and mosaic trisomy 13: a new etiologically defined neurocutaneous syndrome
• Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities
• Pseudoaminopterin syndrome: clinical report with new characteristics
• Syndromes, disorders and maternal risk factors associated with neural tube defects (I)
• Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation
• Wiedemann-Steiner Syndrome