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Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report
INTRODUCTION: The oligophrenin-1 (OPHN1) gene, localized on the X chromosome, is a Rho-GTPase activating protein that is related to syndromic X-linked intellectual disability (XLID). XLID, characterized by brain anomalies, namely cerebellar hypoplasia, specific facial features, and intellectual disa...
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| Publicado no: | Medicine (Baltimore) |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7437857/ https://ncbi.nlm.nih.gov/pubmed/32872024 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000021632 |
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