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Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.
Temtamy, Samia A; Aglan, Mona S; Valencia, Maria; Cocchi, Guido; Pacheco, Maria; Ashour, Adel M; Amr, Khalda S; Helmy, Sanaa M H; El-Gammal, Mona A; Wright, Michael; Lapunzina, Pablo; Goodship, Judith A; Ruiz-Perez, Victor L.
Affiliation
  • Temtamy SA; Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Hum Mutat ; 29(7): 931-8, 2008 Jul.
Article in En | MEDLINE | ID: mdl-18454448
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ellis-Van Creveld Syndrome / Gene Deletion / Long Interspersed Nucleotide Elements / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2008 Type: Article Affiliation country: Egypt
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ellis-Van Creveld Syndrome / Gene Deletion / Long Interspersed Nucleotide Elements / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2008 Type: Article Affiliation country: Egypt