MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency

BACKGROUND: MIRAGE syndrome, a congenital multisystem disorder due to pathogenic SAMD9 variants, describes a constellation of clinical features including 46,XY disorders of sex development (DSD), small for gestational age (SGA) and adrenal insufficiency (AI). It is poorly understood whether SAMD9 va...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Shima, Hirohito, Hayashi, Mie, Tachibana, Takashi, Oshiro, Makoto, Amano, Naoko, Ishii, Tomohiro, Haruna, Hidenori, Igarashi, Maki, Kon, Masafumi, Fukuzawa, Ryuji, Tanaka, Yukichi, Fukami, Maki, Hasegawa, Tomonobu, Narumi, Satoshi
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6221305/
https://ncbi.nlm.nih.gov/pubmed/30403727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0206184
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