Prenatal Diagnosis of Holt–Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report

Background: Holt–Oram syndrome (HOS) is an autosomal dominant disorder caused by mutations of TBX5 gene. Case presentation: We report a fetus with HOS diagnosed sonographically at 23 weeks of gestation. The fetal parents are non-consanguineous. The fetus exhibited short radius and ulna, inability to...

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Detalles Bibliográficos
Autores principales: He, Guan-nan, Wang, Xue-yan, Kang, Min, Chen, Xi-min, Xi, Na, Zhao, Jing, Chen, Xi
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/PMC8561953/
https://www.ncbi.nlm.nih.gov/pubmed/34738001
http://dx.doi.org/10.3389/fped.2021.737633

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