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Expanding the clinical spectrum of biallelic ZNF335 variants
ZNF335 plays an essential role in neurogenesis and biallelic variants in ZNF335 have been identified as the cause of severe primary autosomal recessive microcephaly in two unrelated families. We describe herein two additional affected individuals with biallelic ZNF335 variants, one individual with a...
Gorde:
| Argitaratua izan da: | Clin Genet |
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| Egile Nagusiak: | , , , , , , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2018
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6361164/ https://ncbi.nlm.nih.gov/pubmed/29652087 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13260 |
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