MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement-Reference-Cited by-同舟云学术

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MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

Published:2009-02 Issue:2 Volume:30 Page:E432-E442
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Brancati Francesco,Iannicelli Miriam,Travaglini Lorena,Mazzotta Annalisa,Bertini Enrico,Boltshauser Eugen,D'Arrigo Stefano,Emma Francesco,Fazzi Elisa,Gallizzi Romina,Gentile Mattia,Loncarevic Damir,Mejaski-Bosnjak Vlatka,Pantaleoni Chiara,Rigoli Luciana,Salpietro Carmelo D.,Signorini Sabrina,Stringini Gilda Rita,Verloes Alain,Zabloka Dominika,Dallapiccola Bruno,Gleeson Joseph G.,Valente Enza Maria,

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 94 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Developmental and Inherited Liver Disease;MacSween's Pathology of the Liver;2024

2. Nephronophthisis: a pathological and genetic perspective;Pediatric Nephrology;2023-11-06

3. Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology;Annals of Human Genetics;2023-11-03

4. Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature;Nephron;2023-01-06

5. Radiological Features of Joubert's Syndrome;Journal of Pediatric Neurology;2023-01-05

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