Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome

MEGDEL syndrome and SATB2-associated syndrome (SAS) are both rare congenital disorders with poor prognoses caused by gene mutations. We present the case of a 2-day-old girl with an unexplained abnormal liver function, feeding problem, and dystonia. Using next-generation sequencing, we identified two...

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Detalles Bibliográficos
Autores principales: Su, Yajie, Zhang, Hui, Wang, Huijun, Wu, Bingbing, Yang, Jiao, Zhou, Wenhao, Li, Long
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8517520/
https://www.ncbi.nlm.nih.gov/pubmed/34660482
http://dx.doi.org/10.3389/fped.2021.713458

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8517520/
https://www.ncbi.nlm.nih.gov/pubmed/34660482
http://dx.doi.org/10.3389/fped.2021.713458

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