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Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy
Snyder-Robinson syndrome (SRS) is an extremely rare X-linked intellectual disability syndrome (MRXSSR; MIM #309583). The main clinical features of SRS include psychomotor delay, hypotonia, and asthenic-type body habitus − reduced body weight and bone abnormalities (osteoporosis, fractures, kyphoscol...
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| Опубликовано в: : | Mol Syndromol |
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| Главные авторы: | , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
S. Karger AG
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8215975/ https://ncbi.nlm.nih.gov/pubmed/34177437 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000514122 |
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