Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to adequately counsel patients with EFNB1 mutations an...
| Автори: | , , , , , , |
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| Формат: | Journal article |
| Мова: | English |
| Опубліковано: |
2014
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