Concepedia

A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome

Yoshinori Sato, Hiroyasu Tsukaguchi, Hiroyuki Morita, Koichiro Higasa, Mai T. Tran, Michito Hamada, Toshiaki Usui, Naoki Morito, Shoichiro Horita, Takao Hayashi,

Kidney International · 2018 · 83 citations · 23 references

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23

Clinical features of 78 adults with 22q11 deletion syndrome

Anne S. Bassett, Eva W.C. Chow, Janice Husted et al. · American Journal of Medical Genetics Part A · 2005 · 491 citations · Full text

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Electrophysiology of the retraction syndromes.

A Huber · British Journal of Ophthalmology · 1974 · 318 citations · Full text

, , +17

Human genetic variation database, a reference database of genetic variations in the Japanese population

Koichiro Higasa, Noriko Miyake, Jun Yoshimura et al. · Journal of Human Genetics · 2016 · 303 citations · Full text

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<i>INF2</i>Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

Olivia Boyer, Fabien Névo, Emmanuelle Plaisier et al. · New England Journal of Medicine · 2011 · 284 citations · Full text

, , +15

Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma

Robyn V. Jamieson · Human Molecular Genetics · 2002 · 271 citations · Full text

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