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Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations
Author(s) -
Drijvers JM,
Lefeber DJ,
De Munnik SA,
Pfundt R,
Van De Leeuw N,
Marcelis C,
Thiel C,
Koerner C,
Wevers RA,
Morava E
Publication year - 2010
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2009.01349.x
Subject(s) - medicine , university hospital , human genetics , medical genetics , pediatrics , genetics , family medicine , biology , gene