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Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes
Using a combination of homozygosity mapping and whole-exome sequencing, we identified a novel missense c.1819G>A mutation (S607G) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree of Turkish origin presenting with a syndrome of camptodactyly, scoliosis, limited...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3883930/ https://ncbi.nlm.nih.gov/pubmed/23808592 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12224 |
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