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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
BACKGROUND: The recent availability of whole-exome sequencing has opened new possibilities for the evaluation of individuals with genetically undiagnosed intellectual disability. RESULTS: We report two affected siblings, offspring of first-cousin parents, with intellectual disability, hypotonia, sho...
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| 出版年: | Hum Genomics |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4947303/ https://ncbi.nlm.nih.gov/pubmed/27421267 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-016-0082-2 |
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