Alagille syndrome due to a de novo NOTCH2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report

INTRODUCTION: Here, we report the case of an infant suffering from Alagille syndrome (ALGS), manifesting with the atypical clinical manifestations of prenatal oligohydramnios and renal lesions. To the best of our knowledge, this is the first case of ALGS presenting as prenatal oligohydramnios and re...

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Detalles Bibliográficos
Autores principales: Xu, Fengdan, Peng, Qi, He, Xiaoguang, Chen, Xiaolan, Jiang, Shuanglan, Lu, Xiaomei, Li, Ning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9705967/
https://www.ncbi.nlm.nih.gov/pubmed/36458146
http://dx.doi.org/10.3389/fped.2022.1020536

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9705967/
https://www.ncbi.nlm.nih.gov/pubmed/36458146
http://dx.doi.org/10.3389/fped.2022.1020536

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