Article
Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.
Clinical genetics - 1 Apr 2025
Khan Inam Ullah, Abdullah, Khan Hammal, Ali Amjad, Sani Ayesha, Khan Fati Ullah, Ullah Muhammad Tahir, Ahmed Sohail, Liaqat Romana, Haider Awais, Ullah Kifayat, Ullah Naseeb, Khan Muhammad Sajid, Hussain Shabir, Ullah Imran, Ullah Asmat, Anees Mariam, Makitie Outi, Ahmad Wasim
Abstract excerpt
Limb abnormalities are the second most frequent birth defects seen in infants, after congenital heart disease. Over the past 150 years, more than 50 classifications for limb malformations based on morphology and osseous anatomy have been presented. The goal of the current study is to investigate the genetic basis of congenital limb abnormalities in the Pakistani population. Eight families, presenting different...
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