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Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma
We report a family in which two brothers had an undiagnosed genetic disorder comprised of dysmorphic features, microcephaly, severe intellectual disability (non-verbal), mild anemia, and cryptorchidism. Both developed osteosarcoma. Trio exome sequencing (using blood samples from the younger brother...
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| Yayımlandı: | Am J Med Genet A |
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| Asıl Yazarlar: | , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2017
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7521841/ https://ncbi.nlm.nih.gov/pubmed/28371217 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38184 |
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