Novel heterozygous frameshift mutation in distal-less homeobox 5 underlies isolated split hand/foot malformation type 1

Pediatr Int. 2016 Dec;58(12):1348-1350. doi: 10.1111/ped.13023.

Authors

Asmat Ullah¹, Muhammad Farhat Ullah², Zafar Mahmood Khalid², Wasim Ahmad¹

Affiliations

¹ Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
² Department of Bioinformatics and Biotechnology, International Islamic University Islamabad, Islamabad, Pakistan.

PMID: 27085093
DOI: 10.1111/ped.13023

No abstract available

Keywords: distal-less homeobox 5; Sanger sequencing; autosomal dominant; frameshift variant; split hand/foot malformation.