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Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.
Mullegama, Sureni V; Klein, Steven D; Signer, Rebecca H; Vilain, Eric; Martinez-Agosto, Julian A.
Affiliation
  • Mullegama SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Klein SD; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
  • Signer RH; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
  • Vilain E; Department of Genomic and Precision Medicine, Children's National Hospital, Washington, District of Columbia.
  • Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
Mol Genet Genomic Med ; 7(2): e00501, 2019 02.
Article in En | MEDLINE | ID: mdl-30447054
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Developmental Disabilities / Polydactyly / Genetic Diseases, X-Linked / Antigens, Nuclear / Growth Disorders Type of study: Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2019 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Developmental Disabilities / Polydactyly / Genetic Diseases, X-Linked / Antigens, Nuclear / Growth Disorders Type of study: Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2019 Type: Article