1.
J Cyst Fibros
; 20(6): e121-e123, 2021 11.
Artículo
en Inglés
| MEDLINE
| ID: mdl-33376059
Asunto(s)
Fibrosis Quística , Salud del Hombre , Salud Reproductiva , Salud Sexual , Humanos , Masculino
2.
Hum Mol Genet
; 4(3): 443-8, 1995 Mar.
Artículo
en Inglés
| MEDLINE
| ID: mdl-7795600
RESUMEN
Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BPES families with apparent autosomal dominant inheritance and have tested for linkage with 17 polymorphic markers on 3q. Multipoint analysis generated a maximum LOD score of 3.23 using the markers RHO, ACPP and D3S1238. No evidence of genetic heterogeneity was observed. These studies provide the first non-cytogenetic evidence that a defective gene responsible for BPES is located on 3q22.