1.
Scand J Rheumatol
; 47(3): 251-254, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28895430
Assuntos
DNA/genética , Doenças Hereditárias Autoinflamatórias/genética , Mutação , Complexo de Endopeptidases do Proteassoma/genética , Pré-Escolar , Análise Mutacional de DNA , Feminino , Doenças Hereditárias Autoinflamatórias/metabolismo , Homozigoto , Humanos , Complexo Principal de Histocompatibilidade , Complexo de Endopeptidases do Proteassoma/metabolismo , Síndrome
2.
Case Rep Genet
; 2013: 349725, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23509643
RESUMO
Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, the clinical and molecular studies of a female subject with CFNS are described. A novel de novo c.473T>C (p.M158T) mutation in exon 3 of EFNB1 was demonstrated in this patient. The M158 residue of the Ephrin-B1 protein is highly conserved between species. Our results expand the mutational spectrum exposed by CNFS.