Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers

Dutra, Roberta Lelis; Pieri, Patrícia de Campos; Teixeira, Ana Carolina Dias; Honjo, Rachel Sayuri; Bertola, Debora Romeo; Kim, Chong Ae.
Clinics ; 66(6): 959-964, 2011. ilus, tab
Artículo en Inglés | LILACS | ID: lil-594362

Documentos relacionados

  1. Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
  2. Lacrimal drainage system anomalies in Williams-Beuren syndrome.
  3. Ocular features in Williams-Beuren syndrome: a review of the literature.
  4. [Clinical features and genetic analysis of two children with Williams-Beuren syndrome].
  5. Mosaic Williams syndrome: A case report.
  6. Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.
  7. Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome.
  8. Optical coherence tomography angiography findings in Williams-Beuren syndrome.
  9. Determination of craniofacial and dental characteristics of individuals with Williams-Beuren syndrome by using 3D facial scans and radiographs.
  10. Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes.