Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review

BACKGROUND: PWS is challenging to diagnose prenatally due to a lack of precise and well‐characterized fetal phenotypes and noninvasive markers. Here we present the case of prenatal diagnosis of Prader‐Willi syndrome, which was suspected with whole‐genome NIPS. METHODS: Whole‐genome noninvasive prena...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Shubina, Jekaterina, Barkov, Ilya Y., Stupko, Olga K., Kuznetsova, Maria V., Goltsov, Andrey Y., Kochetkova, Taisya O., Trofimov, Dmitry Y., Sukhikh, Gennady T.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549559/
https://ncbi.nlm.nih.gov/pubmed/32857485
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1448
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