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:C0002871 (
anemia
)
52,094
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
This report describes a 2-month-old female with the
Aase syndrome
, bringing to 8 the total number of cases of this disorder. Features include triphalangeal thumbs and congenital hypoplastic
anaemia
. The occurrence of this disorder in sibs born to unaffected parents and in both sexes makes autosomal recessive inheritance the most likely aetiology.
...
PMID:The Aase syndrome in a female infant. 74 21
A 5-month-old boy with congenital hypoplastic
anaemia
and triphalangeal thumbs, known as the
Aase syndrome
, is described. In addition he had unilateral cleft lip and palate and abnormal dermatoglyphics. Only ten cases have been reported previously; these are reviewed. This case is the third patient reported to have the
Aase syndrome
who also has a cleft lip. Bone marrow cultures failed to stimulate production of erythropoietic precursors.
...
PMID:The Aase syndrome. Case report and review of the literature. 373 21
