Medicine
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3 august 2020 17:10:46 |
| Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report (BMC Medical Genetics) |
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Tweet Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. Howev... |
| 266 viewsCategory: Genetics, Medicine |
 Copy number variation of IL17RA gene and its association with the ankylosing spondylitis risk in Iranian patients: a case-control study (BMC Medical Genetics)The genome-wide supported CACNA1C gene polymorphisms and the risk of schizophrenia: an updated meta-analysis (BMC Medical Genetics) 
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