Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature
Proline Rich 12 (PRR12) protein is primarily expressed in the brain and localized in the nucleus. The variants in the PRR12 gene were reported to be related to neuroocular syndrome. Patients with PRR12 gene presented with intellectual disability (ID), neuropsychiatric disorders, some congenital anom...
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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2024-05-01T00:00:00Z.
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