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Further evidence for distinct traits associated with RBM10 missense variants.

Authors :
Poulton, Cathryn
Baynam, Gareth
Pugh, Kye
Mason, Michael
Kiraly‐Borri, Catherine
Gration, Dylan
Dreyer, Lauren
Viti, Leon
Agostino, Mark
Heng, Julian Ik‐Tsen
Source :
Clinical Genetics; Aug2022, Vol. 102 Issue 2, p161-163, 3p
Publication Year :
2022

Abstract

A case of a missense RBM10 variant in an adult with mild to moderate intellectual disability. Now, with two reported cases, distinct phenotypic traits unique to I RBM10 i missense variants, in addition to intellectual disability, remain to be clarified. [Extracted from the article]

Details

Language :
English
ISSN :
00099163
Volume :
102
Issue :
2
Database :
Complementary Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
157874540
Full Text :
https://doi.org/10.1111/cge.14163