How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review

Objective: Most genetic disorders, especially rare and manifested with an unspecific constellation of developmental anomalies, are challenging to diagnose before birth. The paper aims to present a rare case of terminal 21q22 deletion to extend the knowledge on this rare genetic disease, mostly to fa...

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Autores principales: Miroslaw Wielgos, Przemyslaw Kosinski, Piotr Jedrzejak, Małgorzata Krajewska-Walasek, Magdalena Bartnik-Glaska, Beata Nowakowska, Aleksandra Jezela-Stanek
Formato: article
Lenguaje:EN
Publicado: Elsevier 2021
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Acceso en línea:https://doaj.org/article/6e9d5640b0e040ffab3593fbb4641111
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