A trans-acting protein effect causes severe eye malformation in the Mp mouse.
Rainger, Joe; Keighren, Margaret; Keene, Douglas R; Charbonneau, Noe L; Rainger, Jacqueline K; Fisher, Malcolm; Mella, Sebastien; Huang, Jeffrey T-J; Rose, Lorraine; van't Hof, Rob; Sakai, Lynne Y; Jackson, Ian J; Fitzpatrick, David R.
; 9(12): e1003998, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24348270
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
[A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].
Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.
A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel.
Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
Myogenic bladder defects in mouse models of human oculodentodigital dysplasia.
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients.
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.