1.
J Med Genet
; 37(5): 377-9, 2000 May.
Article
in English
| MEDLINE
| ID: mdl-10905890
Subject(s)
DNA-Binding Proteins/genetics , Genes, Wilms Tumor , Transcription Factors/genetics , Wilms Tumor/genetics , Adolescent , Adult , Amino Acid Sequence , Female , Homozygote , Humans , Introns/genetics , Male , Molecular Sequence Data , Mutation , Pedigree , WT1 Proteins
2.
Am J Med Genet
; 53(2): 102-7, 1994 Nov 01.
Article
in English
| MEDLINE
| ID: mdl-7856636
ABSTRACT
We report on two Dutch sibs with external anomalies compatible with Bartsocas-Papas syndrome, who also had internal anomalies: bilateral renal agenesis in one, and esophageal atresia, hypoplastic diaphragma, unilateral renal agenesis, agenesis of the shaft of the penis, and anal atresia in the other patient. Several possible patterns for the pathogenesis of this combination of anomalies are discussed. We propose a generalized epithelial defect, affecting both epidermis and other lining epithelia, as the most probable cause in the present patients.