Article
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family.
Human molecular genetics - 15 Mar 2017
Singh Nivedita, Kumble Bhat Vishwanath, Tiwari Ankana, Kodaganur Srinivas G, Tontanahal Sagar J, Sarda Astha, Malini K V, Kumar Arun
Abstract excerpt
Anencephaly (APH) is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to APH. APH shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance of APH has been reported in several populations. In this study, we employed whole-exome sequencing and...
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