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A Family With Novel X-Linked Recessive Homozygous Mutation in ANOS1 (c.628_629 del, p.1210fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review
OBJECTIVE: Kallmann syndrome (KS) may be accompanied by anosmia or hyposmia and midline defects. We present an overweight 16-year-old boy with a lack of puberty, anosmia, congenital right eye ptosis, and normal intellectual function. METHODS: Testicular ultrasonography was performed. Whole-exome seq...
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| Опубликовано в: : | AACE Clin Case Rep |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Association of Clinical Endocrinology
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8165205/ https://ncbi.nlm.nih.gov/pubmed/34095492 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.aace.2021.01.007 |
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