Associated Papers
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Martinez-Granero F et al.
Npj Genomic Medicine, 2021
Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report.
Fu Q et al.
American Journal of Medical Genetics. Part A, 2019
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML et al.
Human Mutation, 2018
Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome.
Minatogawa M et al.
American Journal of Medical Genetics. Part A, 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
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation.
Kosaki R et al.
American Journal of Medical Genetics. Part A, 2014
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
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