AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

BACKGROUND: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. Four genetic loci have been mapped, with two...

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Autori principali: Parisi, M A, Doherty, D, Eckert, M L, Shaw, D W W, Ozyurek, H, Aysun, S, Giray, O, Swaid, A Al, Shahwan, S Al, Dohayan, N, Bakhsh, E, Indridason, O S, Dobyns, W B, Bennett, C L, Chance, P F, Glass, I A
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2006
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563230/
https://ncbi.nlm.nih.gov/pubmed/16155189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.036608
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