Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family
Background: Seckel syndrome (SCKL) is a rare autosomal recessive inherited disorder, which is mainly characterized by intrauterine and postnatal growth restrictions, microcephaly, intellectual disability, and a typical “bird-head” facial appearance. Here, we aimed to identify the genetic etiology of...
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| Principais autores: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Frontiers Media S.A.
2023-01-01
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| Series: | Frontiers in Genetics |
| Assuntos: | |
| Acceso en liña: | https://www.frontiersin.org/articles/10.3389/fgene.2022.1052915/full |
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