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De novo Xq21.31–q21.32 duplication in intellectual disability: a new report

  • Published:2019-04 Issue:2 Volume:28 Page:98-100
  • ISSN:0962-8827
  • Container-title:Clinical Dysmorphology
  • language:en
  • Short-container-title:

Author:

Cianci Paola,Agosti Massimo,Modena Piergiorgio,Selicorni Angelo

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. Quantitative analysis of alternative transcripts of human PCDH11X/Y genes;Ahn;Am J Med Genet B Neuropsychiatr Genet,2010

2. The clinical significance of small copy number variants in neurodevelopmental disorders;Asadollahi;J Med Genet,2014

3. Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss;Bademci;Genet Test Mol Biomarkers,2014

4. Xq21.31–q21.32 duplication underlies intellectual disability in a large family with five affected males;Basit;Am J Med Genet A,2016

5. A Xq21.31 duplication without features of Prader–Willi syndrome;Castro-Gago;Endocrine,2013
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