Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy

Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy

Abstract Background Interstitial microdeletion 14q22q23 is a rare chromosomal syndrome associated with variable defects: microphthalmia/anophthalmia, pituitary anomalies, polydactyly/syndactyly of hands and feet, micrognathia/retrognathia. The reports of the microdeletion 14q22q23 detected in the pr...

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Bibliographic Details
Main Authors: Pavlina Capkova, Alena Santava, Ivana Markova, Andrea Stefekova, Josef Srovnal, Katerina Staffova, Veronika Durdová
Format: Article
Language:English
Published: BMC 2017-12-01
Series:Molecular Cytogenetics
Subjects:
Microdeletion 14q22q23
Micrognathia
First trimester ultrasound
Pierre Robin sequence
Online Access:http://link.springer.com/article/10.1186/s13039-017-0351-3

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http://link.springer.com/article/10.1186/s13039-017-0351-3

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