Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome

Sophie C. Currier; Christine K. Lee; Bernard S. Chang; Adria L. Bodell; G. Shashidhar Pai; Leela Job; Lieven G. Lagae; Lihadh I. Al-Gazali; Wafaa M. Eyaid; Greg Enns; William B. Dobyns; Christopher A. Walsh

doi:10.1002/ajmg.a.30487

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Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome

Journal article

Peer reviewed

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome

Sophie C. Currier, Christine K. Lee, Bernard S. Chang, Adria L. Bodell, G. Shashidhar Pai, Leela Job, Lieven G. Lagae, Lihadh I. Al-Gazali, Wafaa M. Eyaid, Greg Enns, …

American journal of medical genetics. Part A, Vol.133A(1), pp.53-57

15/02/2005

DOI: https://doi.org/10.1002/ajmg.a.30487

PMID: 15637732

Abstract

CMD

dystroglycan

Fukuyama congenital muscular dystrophy

lissencephaly

mannosylation

muscle eye brain

neuronal migration

POMT1

Walker-Warburg syndrome

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Title: Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome
Creators - without role: Sophie C. Currier - Beth Israel Deaconess Medical Center
Christine K. Lee - Beth Israel Deaconess Medical Center
Bernard S. Chang - Beth Israel Deaconess Medical Center
Adria L. Bodell - Beth Israel Deaconess Medical Center
G. Shashidhar Pai - Medical University of South Carolina
Leela Job - Loma Linda University
Lieven G. Lagae - Department of Paediatric Neurology, University Hospitals Gasthuisberg, Leuven, Belgium
Lihadh I. Al-Gazali - United Arab Emirates University
Wafaa M. Eyaid - King Abdulaziz Medical City
Greg Enns - Lucile Packard Children's Hospital
William B. Dobyns - University of Chicago
Christopher A. Walsh - Beth Israel Deaconess Medical Center
Publication Details: American journal of medical genetics. Part A, Vol.133A(1), pp.53-57
Publisher: Wiley Subscription Services, Inc., A Wiley Company
Number of pages: 5
Identifiers: 9920310308331
Academic Unit: King Saud Bin Abdulaziz University for Health Sciences
Language: English
Resource Type: Journal article