Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome

BACKGROUND: Fetal akinesia refers to a broad spectrum of disorders with reduced or absent fetal movements. There is no established approach for prenatal diagnosis of the cause of fetal akinesia. Chromosome 1p36 deletion syndrome is the most common subtelomeric terminal deletion syndrome, recognized...

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Detalles Bibliográficos
Autores principales: Toshimitsu, Masatake, Nagaoka, Shinichi, Kobori, Shuusaku, Ogawa, Maki, Suzuki, Fumihiko, Kato, Takema, Miyai, Shunsuke, Kawamura, Rie, Inagaki, Hidehito, Kurahashi, Hiroki, Murotsuki, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6791227/
https://www.ncbi.nlm.nih.gov/pubmed/31662930
http://dx.doi.org/10.1155/2019/6753184

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