[Cockayne syndrome: report of a case]
Genetics in the 3rd Millennium. 2010; 7 (4): 1883-1885
em Persa
| IMEMR
| ID: emr-104791
ABSTRACT
Cockayne Syndrome is a rare autosomal recessive disorder characterized by profound postnatal growth deficiency with loss of adipose tissue, microcephaly, mental retardation, unsteady gait and peripheral neuropathy. We are reporting a 6-year-old girl with severe growth and developmental delay, microcephaly, mental retardation, sunken eyes and photosensitive dermatitis. Her diagnosis confirmed by a defect in DNA repair in fibroblast followed exposure to ultraviolet light
Buscar no Google
Índice:
IMEMR (Mediterrâneo Oriental)
Idioma:
Persa
Revista:
Genet. in the 3rd Millenium
Ano de publicação:
2010
Similares
MEDLINE
...
LILACS
LIS