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 Reports

Volumn 8, Issue , 2013, Pages 145-152

  Zeevaert, R ^a   de Zegher, F ^a   Sturiale, L ^b   Garozzo, D ^b   Smet, M ^c   Moens, M ^d   Matthijs, G ^a   Jaeken, J ^a,c  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b Istituto di Chimica e Tecnologia dei Polimeri   (Italy)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d Pulderbos Revalidatiecentrum voor kinderen en jongeren   (Belgium)

Author keywords

Clot Factor VIII; Coagulation Factor VIII; Head circumference; Midface hypoplasia; Serum transferrin

Indexed keywords

EID: 84885475394     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_172     Document Type: Chapter

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