A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD)-Reference-Cited by-同舟云学术

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD)

Published:2015-12 Issue:12 Volume:58 Page:642-649
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Jazayeri Omid,Liu Xuanzhu,van Diemen Cleo C.,Bakker-van Waarde Willie M.,Sikkema-Raddatz Birgit,Sinke Richard J.,Zhang Jianguo,van Ravenswaaij-Arts Conny M.A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference28 articles.

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2. Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia;Baker;J. Clin. Endocrinol. Metab.,2006

3. Programmed cell death via mitochondria: different modes of dying;Bras;Biochem. Mosc.,2005

4. Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair;Casey;J. Med. Genet.,2012

5. Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2;Chung;Clin. Endocrinol. Oxf.,2010

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