Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165. | JIMD Rep;8: 145-52, 2013. | MEDLINE

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Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.

Zeevaert, R; de Zegher, F; Sturiale, L; Garozzo, D; Smet, M; Moens, M; Matthijs, G; Jaeken, J.

Affiliation

Zeevaert R; Center for Metabolic Disease, Department of Pediatrics, Katholieke Universiteit Leuven, Leuven, Belgium.

JIMD Rep ; 8: 145-52, 2013.

Article in En | MEDLINE | ID: mdl-23430531

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: JIMD Rep Year: 2013 Document type: Article Affiliation country: Country of publication:

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: JIMD Rep Year: 2013 Document type: Article Affiliation country: Country of publication: