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Case Reports
. 2018 Apr;93(4):929-930.
doi: 10.1111/cge.13105. Epub 2017 Oct 4.

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

N Miyake  1 , S Ozasa  2 , H Mabe  2 , S Kimura  3 , M Shiina  4 , E Imagawa  1 , S Miyatake  1 , M Nakashima  1 , T Mizuguchi  1 , A Takata  1 , K Ogata  4 , N Matsumoto  1
Affiliations
Case Reports

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

N Miyake et al. Clin Genet. 2018 Apr.

Abstract

A novel causative variant (c.608G>A, p.Arg203Gln) in PACS1.

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