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A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker‐Warburg syndrome in two Spanish Gypsy families

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Bibliographic Details
Published in:	Clinical genetics 2009-07, Vol.76 (1), p.108-112
Main Authors:	Cotarelo, RP, Fano, O, Raducu, M, Peña, A, Tarilonte, P, Mateos, F, Simón, R, Cabello, A, Cruces, J
Format:	Article
Language:	English
Subjects:	Abnormalities, Multiple - enzymology Abnormalities, Multiple - genetics Base Sequence DNA Mutational Analysis Ethnic Groups - genetics European Continental Ancestry Group - genetics Exons - genetics Family Homozygote Humans Immunohistochemistry Mannosyltransferases - genetics Molecular Sequence Data Muscles - pathology Mutation - genetics Spain Syndrome
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