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

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 prenatal s...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Cytogenet
Auteurs principaux: Capkova, Pavlina, Santava, Alena, Markova, Ivana, Stefekova, Andrea, Srovnal, Josef, Staffova, Katerina, Durdová, Veronika
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2017
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5745897/
https://ncbi.nlm.nih.gov/pubmed/29299063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-017-0351-3
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