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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2023-07-01
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| Series: | Journal of International Medical Research |
| Online Access: | https://doi.org/10.1177/03000605231184100 |