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Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
The classic Rubinstein–Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP gen...
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| 發表在: | Case Rep Genet |
|---|---|
| Main Authors: | , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Hindawi
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7064822/ https://ncbi.nlm.nih.gov/pubmed/32181026 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/6143050 |
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