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Infant Alstrom syndrome diagnosed by a new gene mutation: a case report
Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing. A 2-month-old male infant was admitted to Sichuan Provincial Maternity and Child He...
| 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/PMC10345921/ https://www.ncbi.nlm.nih.gov/pubmed/37439038 http://dx.doi.org/10.1177/03000605231184100 |