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Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report
RATIONALE: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. Here, we report a Chinese boy who do not show the characteristic of hypertrichosis cubiti, and was misdiagnosed as blepharophimosis-...
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| Publié dans: | Medicine (Baltimore) |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Wolters Kluwer Health
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7440326/ https://ncbi.nlm.nih.gov/pubmed/32311999 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000019813 |
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