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Molecular Testing in Holoprosencephaly

Holoprosencephaly (HPE) is a structural brain anomaly characterized by failure of the forebrain to separate during early embryogenesis. Both genetic and environmental etiologies of HPE have been discovered over the last three decades. Traditionally, the genetic work-up for HPE has been a karyotype,...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Med Genet C Semin Med Genet
Prif Awduron: Kruszka, Paul, Martinez, Ariel F., Muenke, Maximilian
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2018
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6125165/
https://ncbi.nlm.nih.gov/pubmed/29771000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31617
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