Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A. Aligianis, Colin A. Johnson, Paul Gissen et al. · Nature Genetics · 2005 · 226 citations

Life Sciences, Genetics, Molecular Biology +6

PEDIATRIC ENDOCRINOLOGY

J. A. Batch · Journal of Paediatrics and Child Health · 2003 · 205 citations

Medicine, Endocrinology, Pediatrics +5

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Danai Bem, Shin‐ichiro Yoshimura, Ricardo Bastos et al. · The American Journal of Human Genetics · 2011 · 175 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

Ryan P. Liegel, Mark T. Handley, Adam Ronchetti et al. · The American Journal of Human Genetics · 2013 · 139 citations

Medicine, Genetics, Molecular Genetics +10

Autosomal Recesssive Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy, and Hypogenitalism

Mette Warburg · American journal of diseases of children · 1993 · 110 citations

Medicine, Genetics, Pediatrics +17