Transient QT interval prolongation in an infant with Simpson–Golabi–Behmel syndrome

CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism

Igor Splawski, Katherine W. Timothy, Leah M. Sharpe et al. · Cell · 2004 · 1.6K citations · Full text

Medicine, Cardiology, Neuroscience +14

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

Giuseppe Pilia, Rhiannon M. Hughes‐Benzie, Alex MacKenzie et al. · Nature Genetics · 1996 · 767 citations

Life Sciences, Genetics, Molecular Genetics +8

Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families

R Hughes-Benzie, Giuseppe Pilia, J.Y. Xuan et al. · American Journal of Medical Genetics · 1996 · 136 citations

Life Sciences, Genetics, Molecular Genetics +15

Long QT syndrome associated with syndactyly identified in females

Melinda L. Marks, Donald L. Trippel, Mark T. Keating · The American Journal of Cardiology · 1995 · 89 citations

Life Sciences, Molecular Genetics, Pediatrics +4

Simpson‐Golabi‐Behmel syndrome: An X‐linked encephalo‐trophoschisis syndrome

Giovanni Neri, R. Marini, Marco Cappa et al. · American Journal of Medical Genetics · 1988 · 80 citations

Medicine, Genetics, Neurology +13