First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India.

This report reviews the phenotypic and genetic data of known BBIS cases in addition to the new phenotypic features, thereby expanding the phenotype of this rare syndrome. PMID: 31421288 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31421288?dopt=Abstract

Source: European Journal of Medical Genetics - August 13, 2019 Category: Genetics & Stem Cells Authors: Gupta N, Yadav S, Gurramkonda VB, Vl R, Sg T, Kabra M Tags: Eur J Med Genet Source Type: research