SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7-Reference-Cited by-同舟云学术

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

Published:2016-05-16 Issue:7 Volume:48 Page:792-797
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Narumi Satoshi,Amano Naoko,Ishii Tomohiro,Katsumata Noriyuki,Muroya Koji,Adachi Masanori,Toyoshima Katsuaki,Tanaka Yukichi,Fukuzawa Ryuji,Miyako Kenichi,Kinjo Saori,Ohga Shouichi,Ihara Kenji,Inoue Hirosuke,Kinjo Tadamune,Hara Toshiro,Kohno Miyuki,Yamada Shiro,Urano Hironaka,Kitagawa Yosuke,Tsugawa Koji,Higa Asumi,Miyawaki Masakazu,Okutani Takahiro,Kizaki Zenro,Hamada Hiroyuki,Kihara Minako,Shiga Kentaro,Yamaguchi Tetsuya,Kenmochi Manabu,Kitajima Hiroyuki,Fukami Maki,Shimizu Atsushi,Kudoh Jun,Shibata Shinsuke,Okano Hideyuki,Miyake Noriko,Matsumoto Naomichi,Hasegawa Tomonobu

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3569.pdf

Reference25 articles.

1. Clark, A.J., McLoughlin, L. & Grossman, A. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet 341, 461–462 (1993).

2. Metherell, L.A. et al. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat. Genet. 37, 166–170 (2005).

3. Muscatelli, F. et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372, 672–676 (1994).

4. Meimaridou, E. et al. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat. Genet. 44, 740–742 (2012).

5. Prasad, R. et al. Thioredoxin reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J. Clin. Endocrinol. Metab. 99, E1556–E1563 (2014).

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