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Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Shuvarikov, Andrey; Campbell, Ian M; Dittwald, Piotr; Neill, Nicholas J; Bialer, Martin G; Moore, Christine; Wheeler, Patricia G; Wallace, Stephanie E; Hannibal, Mark C; Murray, Michael F; Giovanni, Monica A; Terespolsky, Deborah; Sodhi, Sandi; Cassina, Matteo; Viskochil, David; Moghaddam, Billur; Herman, Kristin; Brown, Chester W; Beck, Christine R; Gambin, Anna; Cheung, Sau Wai; Patel, Ankita; Lamb, Allen N; Shaffer, Lisa G; Ellison, Jay W; Ravnan, J Britt; Stankiewicz, Pawel; Rosenfeld, Jill A.
Affiliation
  • Shuvarikov A; Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington.
Hum Mutat ; 34(10): 1415-23, 2013 Oct.
Article in En | MEDLINE | ID: mdl-23878096
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Full text: 1 Database: MEDLINE Main subject: Chromosomes, Human, Pair 3 / Developmental Disabilities / Chromosome Deletion / Cognition Disorders / Endogenous Retroviruses / Muscle Hypotonia Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2013 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Chromosomes, Human, Pair 3 / Developmental Disabilities / Chromosome Deletion / Cognition Disorders / Endogenous Retroviruses / Muscle Hypotonia Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2013 Type: Article