• Mutation; HGNC; 30594; UNC45A; Simple; p.Leu237Pro (c.710T>C); ClinVar=VCV000978046; Zygosity=Homozygous (PubMed=36868038).
  

PubMed=35575086; DOI=10.1172/JCI154997; PMCID=PMC9106349
Duclaux-Loras R., Lebreton C., Berthelet J., Charbit-Henrion F., Nicolle O., Revenu des Courtils C., Waich S., Valovka T., Khiat A., Rabant M., Racine C., Guerrera I.C., Baptista J., Mahe M.M., Hess M.W., Durel B., Lefort N., Banal C., Parisot M., Talbotec C., Lacaille F., Ecochard-Dugelay E., Demir A.M., Vogel G.F., Faivre L., Rodrigues A., Fowler D., Janecke A.R., Muller T., Huber L.A., Rodrigues-Lima F., Ruemmele F.M., Uhlig H.H., Del Bene F., Michaux G., Cerf-Bensussan N., Parlato M.
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
J. Clin. Invest. 132:e154997.1-e154997.12(2022)

PubMed=36868038; DOI=10.1016/j.scr.2023.103057
Banal C., Quelennec E., Talbotec C., Khiat A., Charbit-Henrion F., Cerf-Bensussan N., Lefort N., Lebreton C.
Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A.
Stem Cell Res. 68:103057-103057(2023)