A homozygous FKRP start codon mutation is associated with...

Clinical Genetics 2010 Vol. 78; Iss. 3

A homozygous FKRP start codon mutation is associated with Walker–Warburg syndrome, the severe end of the clinical spectrum

J Van Reeuwijk, MJW Olderode-Berends, C Van Den Elzen, OF Brouwer, T Roscioli, MG Van Pampus, H Scheffer, HG Brunner, H Van Bokhoven, FA Hol
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Volume:
78
Year:
2010
Language:
english
Pages:
7
DOI:
10.1111/j.1399-0004.2010.01384.x
File:
PDF, 705 KB
english, 2010
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