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

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Main Authors: Drijvers, Jefte M. (Author) , Lefeber, Dj (Author) , De Munnik, Sa (Author) , Pfundt, R (Author) , Van De Leeuw, N (Author) , Marcelis, C (Author) , Thiel, Christian (Author) , Koerner, C (Author) , Wevers, Ra (Author) , Morava, E (Author)
Format: Article (Journal) Editorial
Language:English
Published: 9 April 2010
In: Clinical genetics
Year: 2010, Volume: 77, Issue: 5, Pages: 507-509
ISSN:1399-0004
DOI:10.1111/j.1399-0004.2009.01349.x
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1111/j.1399-0004.2009.01349.x
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1399-0004.2009.01349.x
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Author Notes:JM Drijvers, DJ Lefeber, SA de Munnik, R Pfundt, N van de Leeuw, C Marcelis, C Thiel, C Koerner, RA Wevers, E Morava

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