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Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple

Non‐immune hydrops is a prenatal finding which can occur due to an underlying genetic diagnosis such as common chromosomal aneuploidy (Trisomy 21, Turner syndrome etc.). It is extremely rare to have more than one genetic cause of hydrops fetalis in a single pregnancy. This report describes a dichori...

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Detalles Bibliográficos
Autores principales: Al Harthy, Talib, Colaiacovo, Samantha, Gratton, Robert J., Coughlin, Kevin, Siu, Victoria Mok, Prasad, Chitra, Rupar, Charles, Saleh, Maha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447878/
https://www.ncbi.nlm.nih.gov/pubmed/37637203
http://dx.doi.org/10.1002/ccr3.7827