Φορτώνει......
Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome()
Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by mutations in the EFNB1 gene and characterized by distinctive craniofacial and digital malformations. In contrast with most X-linked traits, female patients with CFNS display a more severe phenotype than males. In this report, the cl...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Meta Gene |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Elsevier
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4287793/ https://ncbi.nlm.nih.gov/pubmed/25606386 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2013.11.001 |
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