A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.

A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.
Clin Genet. 2017 Aug 03;:
Authors: Miyake N, Inaba M, Mizuno S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N
Abstract
A novel causative variant (c. 464T>C, p.Leu155Pro) in the heterogeneous nuclear ribonucleoprotein K (HNRNPK) gene.
PMID: 28771707 [PubMed - as supplied by publisher]

Source: Clinical Genetics - August 3, 2017 Category: Genetics & Stem Cells Authors: Miyake N, Inaba M, Mizuno S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N Tags: Clin Genet Source Type: research