| Literature DB >> 8135275 |
E Lopez-Rangel1, M Hrynchak, J M Friedman.
Abstract
We describe a 6 1/2-year-old girl with the cardio-facio-cutaneous (CFC) syndrome. She presents with most of the characteristics of this condition: typical facial changes, congenital heart defect, slow growth, ectodermal dysplasia, and developmental delay. Chromosome analysis disclosed a 46,XX,inv(7)(q21.2q31.2) mat karyotype.Entities:
Mesh：
Year: 1993 PMID： 8135275 DOI： 10.1002/ajmg.1320470306
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299