A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia. | Eur J Med Genet;54(1): 94-6, 2011. | MEDLINE

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A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.

Gimelli, S; Makrythanasis, P; Stouder, C; Antonarakis, S E; Bottani, A; Béna, F.

Eur J Med Genet ; 54(1): 94-6, 2011.

Article in En | MEDLINE | ID: mdl-20933621

Subject(s)

Abnormalities, Multiple/genetics; Chromosome Deletion; Chromosomes, Human, Pair 12/genetics; Cleft Palate/pathology; Intellectual Disability/pathology; Myopia/pathology; Abnormalities, Multiple/pathology; Child; Comparative Genomic Hybridization; Female; Humans

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Chromosomes, Human, Pair 12 / Chromosome Deletion / Cleft Palate / Intellectual Disability / Myopia Limits: Child / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2011 Type: Article

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Chromosomes, Human, Pair 12 / Chromosome Deletion / Cleft Palate / Intellectual Disability / Myopia Limits: Child / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2011 Type: Article