Affiliation:
1. Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences Lucknow Uttar Pradesh India
Abstract
AbstractWe report the third case of FADS due to biallelic DOK7 variants, which further strengthens the association of DOK7 with this lethal phenotype and lack of genotype phenotype correlation.
Funder
Indian Council of Medical Research
Subject
Genetics (clinical),Genetics