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:C0039730 (
thalassemia
)
10,305
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Two brothers are presented who were previously diagnosed to have atypical
Smith-Lemli-Opitz syndrome
. On repeated examinations, however, the facial anomalies of the patients suggested that they would have rather alpha-
thalassaemia
/mental retardation syndrome. The presence of hemoglobin H inclusions in the peripheral red blood cell supported the clinical suspicion. The search for hemoglobin H inclusions should be considered as a screening test when evaluating mentally retarded boys.
...
PMID:[Alpha thalassemia/metal retardation syndrome--a new X-chromosome linked recessive genetically inherited symptom complex]. 967 15
