A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing

BACKGROUND: Adrenal hypoplasia is a rare congenital disorder, which can be classified into a non-syndromic form, without extra-adrenal features, and a syndromic form, with such features. Despite biochemical and molecular genetic evaluation, etiologic diagnosis cannot be performed in many patients wi...

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Detalles Bibliográficos
Autores principales: Kim, Yoon-Myung, Seo, Go Hun, Kim, Gu-Hwan, Ko, Jung Min, Choi, Jin-Ho, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836387/
https://www.ncbi.nlm.nih.gov/pubmed/29506479
http://dx.doi.org/10.1186/s12881-018-0546-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836387/
https://www.ncbi.nlm.nih.gov/pubmed/29506479
http://dx.doi.org/10.1186/s12881-018-0546-4

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