Joubert syndrome 28 (Q32145830)
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Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23
- JBTS28
- Joubert Syndrome 28
- Joubert Syndrome type 28
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Joubert syndrome 28 |
Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23 |
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Statements
2 references
Identifiers
1 reference
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1 reference