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Journal articles
Recent advances in understanding inheritance of Holoprosencephaly
Abstract : Holoprosencephaly (HPE) is a complex genetic disorder of the developing forebrain characterized by high phenotypic and genetic heterogeneity. HPE was initially defined as an autosomal dominant disease, but recent research has shown that its mode of transmission is more complex. The past decade has witnessed rapid development of novel genetic technologies and significant progresses in clinical studies of HPE. In this review, we recapitulate genetic epidemiological studies of the largest European HPE cohort and summarize the novel genetic discoveries of HPE based on recently developed diagnostic methods. Our main purpose is to present different inheritance patterns that exist for HPE with a particular emphasis on oligogenic inheritance and its implications in genetic counseling.
Cited literature [83 references]
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01812521
Contributor : Laurent Jonchère <>
Submitted on : Friday, September 14, 2018 - 11:41:27 AM
Last modification on : Thursday, January 14, 2021 - 11:24:46 AM
Long-term archiving on: : Saturday, December 15, 2018 - 12:26:22 PM
Contributor : Laurent Jonchère <>
Submitted on : Friday, September 14, 2018 - 11:41:27 AM
Last modification on : Thursday, January 14, 2021 - 11:24:46 AM
Long-term archiving on: : Saturday, December 15, 2018 - 12:26:22 PM
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