Homozygosity for the pathogenic RET hotspot variant p.Cys634Trp: A consanguineous family with MEN2A.

We present the first report of individuals homozygous for the highly activating RET p.Cys634Trp pathogenic variant and discuss disease severity and onset in this rare occurrence. PMID: 33450337 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/33450337?dopt=Abstract

Source: European Journal of Medical Genetics - January 12, 2021 Category: Genetics & Stem Cells Authors: Schirwani S, Fraser S, Mushtaq T, Chengot P, Mavrogiannis LA, Jewell R, Adlard J Tags: Eur J Med Genet Source Type: research