A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.

Preiksaitiene, E; Männik, K; Dirse, V; Utkus, A; Ciuladaite, Z; Kasnauskiene, J; Kurg, A; Kucinskas, V

Preiksaitiene, E; Männik, K; Dirse, V; Utkus, A; Ciuladaite, Z; Kasnauskiene, J; Kurg, A; Kucinskas, V.

Affiliation

Preiksaitiene E; Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania. eglepreiksaitiene@gmail.com

Eur J Med Genet ; 55(11): 656-9, 2012 Nov.

Article in En | MEDLINE | ID: mdl-22842074

Subject(s)

Abnormalities, Multiple/genetics; Intellectual Disability/genetics; Muscular Atrophy/genetics; Abnormalities, Multiple/diagnosis; Adolescent; Calcium Channels, T-Type/genetics; Chromosome Deletion; Chromosomes, Human, Pair 17/genetics; Craniofacial Abnormalities; Extracellular Matrix Proteins/genetics; Facies; Humans; Intellectual Disability/diagnosis; Male; Microcephaly/genetics; Muscular Atrophy/diagnosis; Nerve Tissue Proteins/genetics; Smith-Magenis Syndrome; Syndrome

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Muscular Atrophy / Intellectual Disability Type of study: Diagnostic_studies / Risk_factors_studies Limits: Adolescent / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2012 Document type: Article Affiliation country: Lithuania

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