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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.
Hum Genet ; 132(5): 537-52, 2013 May.
Article in En | MEDLINE | ID: mdl-23354975

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: X Chromosome / Abnormalities, Multiple / Chromosomes, Human, Pair 5 / Nuclear Proteins / Histone Demethylases / Haploinsufficiency Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Animals / Female / Humans Language: En Journal: Hum Genet Year: 2013 Type: Article Affiliation country: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: X Chromosome / Abnormalities, Multiple / Chromosomes, Human, Pair 5 / Nuclear Proteins / Histone Demethylases / Haploinsufficiency Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Animals / Female / Humans Language: En Journal: Hum Genet Year: 2013 Type: Article Affiliation country: United States