Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report-Reference-Cited by-同舟云学术

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Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report

Published:2016-12 Issue: Volume:9 Page:15-17
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Chen Chun,Zhou Rui,Fang Yanlan,Jiang Liqiong,Liang Li,Wang Chunlin

Funder

National Natural Science Foundation of China

Open Foundation of Key Laboratory of Reproductive Genetics

Ministry of Education/Key Laboratory for Diagnosis and Therapy of Neonatal Disease, China

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference13 articles.

1. Familial glucocorticoid deficiency: new genes and mechanisms;Meimaridou;Mol. Cell. Endocrinol.,2013

2. Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation;Modan-Moses;J. Clin. Endocrinol. Metab.,2006

3. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2;Metherell;Nat. Genet.,2005

4. A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD);Jazayeri;Eur. J. Med. Genet.,2015

5. Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India;Vasudevan;J. Clin. Res. Pediatr. Endocrinol.,2013

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