A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.

A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.
Clin Genet. 2017 Oct 04;:
Authors: Miyake N, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N
Abstract
A novel causative variant (c.608G>A, p.Arg203Gln) in PACS1.
PMID: 28975623 [PubMed - as supplied by publisher]

Source: Clinical Genetics - October 4, 2017 Category: Genetics & Stem Cells Authors: Miyake N, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N Tags: Clin Genet Source Type: research