Cargando…
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...
Autores principales: | Makarov, Roman, Steiner, Bernhard, Gucev, Zoran, Tasic, Velibor, Wieacker, Peter, Wieland, Ilse |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
|
Materias: | |
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 |
Ejemplares similares
-
IGF1R Gene Alterations in Small for Gestational Age (SGA) Children
por: Janchevska, Aleksandra, et al.
Publicado: (2018) -
Duplication of the EFNB1 Gene in Familial Hypertelorism: Imbalance in Ephrin-B1 Expression and Abnormal Phenotypes in Humans and Mice
por: Babbs, Christian, et al.
Publicado: (2011) -
A Patient with Unilateral Tibial Aplasia and Accessory Scrotum: A Pure Coincidence or Nonfortuitous Association?
por: Gucev, Zoran, et al.
Publicado: (2010) -
Metabolic Profiles in Obese Children and Adolescents with Insulin Resistance
por: Kostovski, Marko, et al.
Publicado: (2018) -
The Spectrum of Kidney Diseases in Children Associated with Low Molecular Weight Proteinuria
por: Salihu, Shpetim, et al.
Publicado: (2018)