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Complex Phenotype of Dyskeratosis Congenita and Mood Dysregulation with Novel Homozygous RTEL1 and TPH1 Variants
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome caused by germline mutations in telomere biology genes. Patients have extremely short telomeres for their age and a complex phenotype including oral leukoplakia, abnormal skin pigmentation and dysplastic nails in addition to bo...
Tallennettuna:
| Julkaisussa: | Am J Med Genet A |
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| Päätekijät: | , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2018
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5992073/ https://ncbi.nlm.nih.gov/pubmed/29696773 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38706 |
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