• A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH
• Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl
• Brachydactyly type A-7 (Smorgasbord): a new entity
• Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
• Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension
• 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 IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7
• Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type
• Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates