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Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review
Temtamy syndrome is an extremely rare disorder caused by chromosome 12 open reading frame 57 (C12orf57) pathogenic variants. The present study reported a boy with Temtamy syndrome displaying global developmental delay, epilepsy and dysmorphic facial appearance. Whole-exome sequencing was performed t...
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| Publicat a: | Exp Ther Med |
|---|---|
| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
D.A. Spandidos
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6909780/ https://ncbi.nlm.nih.gov/pubmed/31853307 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2019.8183 |
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