A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.

Hye Sun HyunSeong Heon KimEujin ParkMyung Hyun ChoHee Gyung KangHyun Soon LeeNoriko MiyakeNaomichi MatsumotoHiroyasu TsukaguchiHae Il Cheong

Published in: BMC medical genetics (2018)

We report on a familial case of GAMOS with three affected siblings carrying a novel homozygous TP53RK mutation. To our knowledge, this is only the second report on GAMOS in association with a TP53RK mutation.

Keyphrases

early onset
healthcare
case report
intellectual disability