A novel Xp22.13 microdeletion in Nance-Horan syndrome.

Accogli, Andrea; Traverso, Monica; Madia, Francesca; Bellini, Tommaso; Vari, Maria Stella; Pinto, Francesca; Capra, Valeria

Accogli, Andrea; Traverso, Monica; Madia, Francesca; Bellini, Tommaso; Vari, Maria Stella; Pinto, Francesca; Capra, Valeria.

Affiliation

Accogli A; Istituto G. Gaslini, Genova, Italy.
Traverso M; Università degli Studi di Genova, Italy.
Madia F; Istituto G. Gaslini, Genova, Italy.
Bellini T; Università degli Studi di Genova, Italy.
Vari MS; Istituto G. Gaslini, Genova, Italy.
Pinto F; Istituto G. Gaslini, Genova, Italy.
Capra V; Università degli Studi di Genova, Italy.

Birth Defects Res ; 109(11): 866-868, 2017 Jul 03.

Article in En | MEDLINE | ID: mdl-28464487

Subject(s)

Cataract/congenital; Genetic Diseases, X-Linked/genetics; Tooth Abnormalities/genetics; Cataract/genetics; Cataract/metabolism; Chromosome Deletion; Chromosomes, Human, X/genetics; Codon, Nonsense; Comparative Genomic Hybridization/methods; Exons/genetics; Genes, X-Linked/genetics; Genetic Diseases, X-Linked/metabolism; Humans; Infant; Intellectual Disability/genetics; Intercellular Signaling Peptides and Proteins; Male; Membrane Proteins; Mutation; Nuclear Proteins/genetics; Pedigree; Phenotype; Polycomb-Group Proteins/genetics; Proteins/genetics; Sex Chromosome Aberrations/embryology; Syndrome; Tooth Abnormalities/metabolism

Key words

Nance-Horan syndrome; Xp22.13 microdeletion; cataract and teeth anomalies; developmental delay

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tooth Abnormalities / Cataract / Genetic Diseases, X-Linked Limits: Humans / Infant / Male Language: En Journal: Birth Defects Res Year: 2017 Document type: Article Affiliation country: Italy Country of publication: United States

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