A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.
Noriko MiyakeS OzasaH MabeS KimuraM ShiinaE ImagawaS MiyatakeM NakashimaT MizuguchiA TakataK OgataN MatsumotoPublished in: Clinical genetics (2017)
A novel causative variant (c.608G>A, p.Arg203Gln) in PACS1.
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