| Literature DB >> 1518029 |
P Labrune1, R Assathiany, D Penso, M Odièvre.
Abstract
A boy, born to first cousin parents of Algerian origin, first presented at the age of 9 years with growth failure, mental retardation, and dysmorphic facies. Progressive vitiligo developed from the age of 12 and distal duplication of the urethra was later recognised. The basis of this syndrome remains to be determined; autoimmune disease, chromosomal breakage syndromes, and other neurocutaneous syndromes have been excluded.Entities:
Mesh:
Year: 1992 PMID: 1518029 PMCID: PMC1016071 DOI: 10.1136/jmg.29.8.592
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318