Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient prese...

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Veröffentlicht in:	European journal of human genetics : EJHG 2018-03, Vol.26 (3), p.359-366
Hauptverfasser:	Kammoun, Molka, Brady, Paul, De Catte, Luc, Deprest, Jan, Devriendt, Koenraad, Vermeesch, Joris Robert
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Cataract - congenital Cataract - genetics Cataract - pathology Cell migration Codon, Nonsense Developmental disabilities Diaphragm Diaphragm - embryology Diaphragm - metabolism Fetuses Gene expression Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - pathology Hernia Hernias Hernias, Diaphragmatic, Congenital - genetics Hernias, Diaphragmatic, Congenital - pathology Humans Infant, Newborn Loss of Function Mutation Male Mice Nuclear Proteins - genetics Nuclear Proteins - metabolism Phenotype Prenatal development Progenitor cells Somites Stem cells Tooth Abnormalities - genetics Tooth Abnormalities - pathology
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