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

Kim, Yoon-Myung; Seo, Go Hun; Kim, Gu-Hwan; Ko, Jung Min; Choi, Jin-Ho; Yoo, Han-Wook

Kim, Yoon-Myung; Seo, Go Hun; Kim, Gu-Hwan; Ko, Jung Min; Choi, Jin-Ho; Yoo, Han-Wook.

Afiliación

Kim YM; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-Gu, Seoul, 05505, South Korea.
Seo GH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-Gu, Seoul, 05505, South Korea.
Kim GH; Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
Ko JM; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea.
Choi JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-Gu, Seoul, 05505, South Korea.
Yoo HW; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-Gu, Seoul, 05505, South Korea. hwyoo@amc.seoul.kr.

BMC Med Genet ; 19(1): 35, 2018 03 05.

Article en En | MEDLINE | ID: mdl-29506479

Asunto(s)

Insuficiencia Suprarrenal/diagnóstico; Insuficiencia Suprarrenal/genética; Secuenciación del Exoma; Retardo del Crecimiento Fetal/diagnóstico; Retardo del Crecimiento Fetal/genética; Osteocondrodisplasias/diagnóstico; Osteocondrodisplasias/genética; Anomalías Urogenitales/diagnóstico; Anomalías Urogenitales/genética; 17-alfa-Hidroxiprogesterona/sangre; Hormona Adrenocorticotrópica/sangre; Pueblo Asiatico/genética; Criptorquidismo/diagnóstico; Criptorquidismo/genética; Inhibidor p57 de las Quinasas Dependientes de la Ciclina/genética; Exones; Enfermedades de los Genitales Masculinos/diagnóstico; Enfermedades de los Genitales Masculinos/genética; Humanos; Hidrocortisona/uso terapéutico; Recién Nacido; Péptidos y Proteínas de Señalización Intracelular; Masculino; Mutación; Pene/anomalías; Proteínas/genética; Renina/sangre

Palabras clave

Congenital adrenal hypoplasia; MIRAGE syndrome; SAMD9

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Anomalías Urogenitales / Insuficiencia Suprarrenal / Retardo del Crecimiento Fetal / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Corea del Sur

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