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. (Q40256605)
Jump to navigation
Jump to search
scientific article published on 22 August 2012
Language | Label | Description | Also known as |
---|---|---|---|
English | 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. |
scientific article published on 22 August 2012 |
Statements
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 (English)
R Zeevaert
F de Zegher
L Sturiale
M Smet
M Moens
G Matthijs
22 August 2012
1 reference
1 reference
1 reference