Muhammad Bilal, Hammal Khan, Muhammad Javed Khan, Tobias B Haack, Rebecca Buchert, Khurram Liaqat, Kifayat Ullah, Sohail Ahmed, Thashi Bharadwaj, Anushree Acharya, Susana Peralta, Najumuddin, Hamid Ali, Muhammad Sharif Hasni, Isabelle Schrauwen, Asmat Ullah, Wasim Ahmad, Suzanne M Leal
Polydactyly is the most common limb malformation that occurs in 1.6-10.6 per one thousand live births, with incidence varying with ancestry. The underlying gene has been identified for many of the ~100 syndromes that include polydactyly. While for the more common form, nonsydromic polydactyly, eleven candidate genes have been reported. We investigated the underlying genetic cause of autosomal recessive nonsyndromic postaxial polydactyly in four consanguineous Pakistani families. Some family members with postaxial polydactyly also present with syndactyly, camptodactyly, or clinodactyly...
November 2023: European Journal of Human Genetics: EJHG