Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0035412 (
rhabdomyosarcoma
)
6,156
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report on a consanguineous Turkish family whose first son died of
anal atresia
and whose second son presented with severe pre- and post-natal growth retardation as well as striking microcephaly, immunodeficiency, congenital heart disease, chromosomal instability and
rhabdomyosarcoma
in the anal region. The proband was found to carry the homozygous 657del5 mutation in the NBS1 gene, which is responsible for Nijmegen breakage syndrome (NBS) in most of the Slav populations. Our family, the first diagnosed with NBS in the Turkish population, represents one of the most severely affected examples of the syndrome, with profound pre- and post-natal growth retardation associated with structural abnormalities, and expands the clinical spectrum of this rare disorder.
...
PMID:657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. 1212 93
