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PMID: 19357119 Published · ppublish English Case Reports Letter Research Support, Non-U.S. Gov't

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).

Journal of medical genetics ·Vol. 46 ·No. 4 ·2009-04-00 ·Pages 287-8

Romano S, Bajolle F, Valayannopoulos V, Lyonnet S, Colomb V, de Baracé C, Vouhe P, Pouard P, Vuillaumier-Barrot S, Dupré T, de Keyzer Y, Sidi D, Seta N, Bonnet D, de Lonlay P

Abstract

暂无摘要

MeSH Terms

Congenital Disorders of Glycosylation/complications,diagnosis,genetics DNA Mutational Analysis Diagnosis, Differential Fatal Outcome Female Heart Defects, Congenital/diagnosis,etiology Humans Male Mutation Phosphotransferases (Phosphomutases)/genetics

Chemicals

Phosphotransferases (Phosphomutases) phosphomannomutase 2, human

Authors & Affiliations

15 authors, click to expand affiliations / ORCID

Romano S

Bajolle F

Valayannopoulos V

Lyonnet S

Colomb V

de Baracé C

Vouhe P

Pouard P

Vuillaumier-Barrot S

Dupré T

de Keyzer Y

Sidi D

Seta N

Bonnet D

de Lonlay P

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

1468-6244

DOI

10.1136/jmg.2008.057620

Published

2009-04-00

Pages

287-8

Language

English

Region

England

NLM ID

2985087R

Subset

External Links

PubMed source DOI: 10.1136/jmg.2008.057620 View journal details

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Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).

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