Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood-Reference-Cited by-同舟云学术

Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood

Published:2008-10-01 Issue:10 Volume:93 Page:3971-3980
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Bougnères Pierre¹,Pantalone Letitia¹,Linglart Agnès¹,Rothenbühler Anya¹,Le Stunff Catherine¹

Affiliation:

1. Department of Pediatric Endocrinology, Hôpital Saint Vincent de Paul, Paris V University, 75014 Paris, France

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/93/10/3971/9055850/jcem3971.pdf

Reference64 articles.

1. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.;Amiel;Nat Genet,2003

2. Molecular analysis of congenital central hypoventilation syndrome.;Sasaki;Hum Genet,2003

3. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.;Weese-Mayer;Am J Med Genet A,2003

4. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.;Matera;J Med Genet,2004

5. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.;Trochet;Am J Hum Genet,2005

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