Ontology highlight
ABSTRACT:
SUBMITTER: Chacon-Camacho OF
PROVIDER: S-EPMC4287793 | biostudies-literature | 2014 Dec
REPOSITORIES: biostudies-literature
Chacon-Camacho Oscar F OF Arce-Gonzalez Rocio R Villegas-Ruiz Vanessa V Pelcastre-Luna Erika E Uría-Gómez Conrado E CE Granillo-Alvarez Mariella M Zenteno Juan C JC
Meta gene 20131128
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 clinical, molecular and RNA expression analyses of a female subject with CFNS are described. A novel c.445_449delGAGGG deletion in exon 3 of EFNB1 was demonstrated in this patient. To assess the effect ...[more]