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Clinical outcomes of fetuses with chromosome 16 short arm copy number variants

BACKGROUND: The short arm of chromosome 16 consists of several copy number variants (CNVs) that are crucial in neurodevelopmental disorders; however, incomplete penetrance and diverse phenotypes after birth aggravate the difficulty of prenatal genetic counseling. METHODS: We screened 15,051 pregnant...

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Detalles Bibliográficos
Autores principales: Kang, Jessica, Lee, Chien‐Nan, Su, Yi‐Ning, Tai, Yi‐Yun, Chen, Chih‐Ling, Chen, Han‐Ying, Lin, Shin‐Yu
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/PMC10337270/
https://www.ncbi.nlm.nih.gov/pubmed/37013606
http://dx.doi.org/10.1002/mgg3.2174