The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function

BACKGROUND: Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males. This sex-dependent inheritance has been expla...

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Detalles Bibliográficos
Autores principales: Makarov, Roman, Steiner, Bernhard, Gucev, Zoran, Tasic, Velibor, Wieacker, Peter, Wieland, Ilse
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901216/
https://www.ncbi.nlm.nih.gov/pubmed/20565770
http://dx.doi.org/10.1186/1471-2350-11-98

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901216/
https://www.ncbi.nlm.nih.gov/pubmed/20565770
http://dx.doi.org/10.1186/1471-2350-11-98

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