Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia and coronal craniosynostosis (fusion of the coronal sutures); in males, hypertelorism is the only typ...
Κύριοι συγγραφείς: | Twigg, SR, Kan, R, Babbs, C, Bochukova, E, Robertson, S, Wall, SA, Morriss-Kay, G, Wilkie, A |
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Μορφή: | Journal article |
Γλώσσα: | English |
Έκδοση: |
2004
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Παρόμοια τεκμήρια
Παρόμοια τεκμήρια
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Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
ανά: van den Elzen, M, κ.ά.
Έκδοση: (2014) -
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
ανά: Van Den Elzen, M, κ.ά.
Έκδοση: (2014) -
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
ανά: Vasudevan, P, κ.ά.
Έκδοση: (2006) -
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
ανά: Twigg, SR, κ.ά.
Έκδοση: (2006) -
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
ανά: Babbs, C, κ.ά.
Έκδοση: (2011)