Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.

Shimojima, Keiko; Okamoto, Nobuhiko; Yamamoto, Toshiyuki

Shimojima, Keiko; Okamoto, Nobuhiko; Yamamoto, Toshiyuki.

Affiliation

Shimojima K; Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan.
Yamamoto T; Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.

Congenit Anom (Kyoto) ; 55(3): 125-32, 2015 Aug.

Article in En | MEDLINE | ID: mdl-25900130

Subject(s)

Abnormalities, Multiple/genetics; Brain/pathology; Chromosome Deletion; Chromosomes, Human, Pair 2/genetics; Child, Preschool; Female; Genetic Predisposition to Disease; Genotype; Humans; In Situ Hybridization, Fluorescence; Male; Phenotype; Syndrome; Young Adult

Key words

2p15-p16.1 microdeletion syndrome; USP34; XPO1; autistic features; intellectual disability

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Chromosomes, Human, Pair 2 / Brain / Chromosome Deletion Type of study: Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Male Language: En Journal: Congenit Anom (Kyoto) Journal subject: TERATOLOGIA Year: 2015 Document type: Article Affiliation country: Japan Country of publication: Australia

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