Associated Papers
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ et al.
Journal of Medical Genetics, 2023
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML et al.
Human Mutation, 2018
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Cottereau E et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013
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