Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.

Kauvar, Emily F; Hu, Ping; Pineda-Alvarez, Daniel E; Solomon, Benjamin D; Dutra, Amalia; Pak, Evgenia; Blessing, Brooke; Proud, Virginia; Shanske, Alan L; Stevens, Cathy A; Rosenfeld, Jill A; Shaffer, Lisa G; Roessler, Erich; Muenke, Maximilian

Kauvar, Emily F; Hu, Ping; Pineda-Alvarez, Daniel E; Solomon, Benjamin D; Dutra, Amalia; Pak, Evgenia; Blessing, Brooke; Proud, Virginia; Shanske, Alan L; Stevens, Cathy A; Rosenfeld, Jill A; Shaffer, Lisa G; Roessler, Erich; Muenke, Maximilian.

Affiliation

Kauvar EF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Mol Genet Metab ; 102(4): 470-80, 2011 Apr.

Article in En | MEDLINE | ID: mdl-21227728

Subject(s)

Holoprosencephaly/genetics; Abnormalities, Multiple/genetics; Adult; Animals; Base Sequence; Bone Morphogenetic Proteins/metabolism; Case-Control Studies; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 18; Comparative Genomic Hybridization; Female; Genetic Association Studies; Holoprosencephaly/epidemiology; Humans; In Situ Hybridization, Fluorescence; Nucleic Acid Denaturation; Sequence Analysis, DNA; Signal Transduction/genetics

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Full text: 1 Database: MEDLINE Main subject: Holoprosencephaly Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Animals / Child / Child, preschool / Female / Humans Language: En Year: 2011 Type: Article

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