A Novel Mutation Diagnosing in Allan–Herndon–Dudley's Syndrome
| العنوان: | A Novel Mutation Diagnosing in Allan–Herndon–Dudley's Syndrome |
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| المؤلفون: | Rojan Ipek, Sevcan Tug Bozdogan, Mustafa Kömür, Cetin Okuyaz |
| المصدر: | Journal of Pediatric Genetics. |
| بيانات النشر: | Georg Thieme Verlag KG, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Pediatrics, Perinatology and Child Health, Genetics (clinical) |
| الوصف: | Allan–Herndon–Dudley's syndrome (AHDS) is a rare X-linked recessive disease that causes abnormal serum thyroid function tests, severe hypotonia, intellectual disability, and motor deficit due to a mutation in the monocarboxylate transporter 8, which is a thyroid hormone transporter. A 6-month-old male patient presented to our outpatient clinic with a serious hypotonia complaint. With a preliminary diagnosis of AHDS, a molecular genetic examination was performed. The molecular genetic analysis detected a new previously unidentified variant in the SLC16A2 gene. This case has been presented to report the AHDS, which is a rare cause of hypotonia in patients presenting/consulting with severe hypotonia, global developmental delay, and abnormal thyroid function test results. Besides, a novel pathogenic mutation in the SLC16A2 gene has been described in the present article. |
| تدمد: | 2146-460X 2146-4596 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::24f6bae6ee9e1c7d7d1351dddf54e63d https://doi.org/10.1055/s-0041-1740457 |
| رقم الأكسشن: | edsair.doi...........24f6bae6ee9e1c7d7d1351dddf54e63d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 2146460X 21464596 |
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