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A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
Mol Genet Genomic Med
September 2020
Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: Brachydactyly (BD) is a rare autosomal dominant inherited disease characterized by shortness of the fingers and/or toes, which has been classified into the subtypes A-E. However, the exact cause and mechanism of BD remain to be illuminated. Here, we aim to reveal the clinical and genetic characteristics of a subtype of BD, brachydactyly-anonychia.
View Article and Find Full Text PDFBrachydactyly-anonychia with congenital absent phalanges of the hand.
ANZ J Surg
November 2020
Department of Plastic Surgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
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