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A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene
We report the clinical features and genetic testing of a child with Smith–Magenis syndrome (SMS) to improve the understanding of this disease. The clinical data and molecular genetic test results of a child with SMS caused by a novel mutation in the retinoic acid-induced-1 (RAI1) gene were reviewed....
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683568/ https://www.ncbi.nlm.nih.gov/pubmed/37756600 http://dx.doi.org/10.1177/03000605231190553 |