Associated Papers
Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.
Nisbet AF et al.
American Journal of Medical Genetics. Part A, 2024
Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer.
Lee NY et al.
Human Genomics, 2023
37461096 (PubMed )
Supplement: 40246_2023_510_MOESM1_ESM.xlsx › S4
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML et al.
Human Mutation, 2018
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML et al.
Human Mutation, 2018
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.
Yano S et al.
Clinical Genetics, 2011
Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome.
Gertsch E et al.
American Journal of Medical Genetics. Part A, 2010
GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.
Sakazume S et al.
American Journal of Medical Genetics. Part A, 2007
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.
Ratbi I et al.
The Turkish Journal of Pediatrics, 0
Select a paper to view details