Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations

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Bibliographic Details
Published inClinical genetics Vol. 77; no. 5; pp. 507 - 509
Main Authors Drijvers, J M, Lefeber, D J, de Munnik, S A, Pfundt, R, van de Leeuw, N, Marcelis, C, Thiel, C, Koerner, C, Wevers, R A, Morava, E
Format Report
LanguageEnglish
Published 01.05.2010
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Bibliography:ObjectType-Case Study-3
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ObjectType-Report-2
ISSN:1399-0004
DOI:10.1111/j.1399-0004.2009.01349.x