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

Author:

Shima Hirohito,Hayashi Mie,Tachibana Takashi,Oshiro Makoto,Amano Naoko,Ishii Tomohiro,Haruna Hidenori,Igarashi Maki,Kon Masafumi,Fukuzawa RyujiORCID,Tanaka Yukichi,Fukami Maki,Hasegawa Tomonobu,Narumi SatoshiORCID

Funder

Takeda Science Foundation

Foundation for Growth Science

Ministry of Education, Culture, Sports, Science and Technology

National Center for Child Health and Development

Japan Agency for Medical Research and Development

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference18 articles.

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2. Birth Weight in Different Etiologies of Disorders of Sex Development;S Poyrazoglu;The Journal of clinical endocrinology and metabolism,2017

3. Intrauterine growth restriction and hypospadias: is there a connection;MJ Chen;International journal of pediatric endocrinology,2014

4. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome;VA Arboleda;Nature genetics,2012

5. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7;S Narumi;Nature genetics,2016

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