Gene/Protein
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Enzyme
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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
Disease
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Query: UMLS:C0265264 (
HOS
)
1,119
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Holt-Oram syndrome
or heart-hand syndrome consists of phenotypic and genotypic abnormalities. It is characterized by abnormalities of upper limbs and congenital cardiac defects. It is an autosomal dominant disorder due to a mutation in TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe a 26-year-old female with a history of
shortness of breath
for 5 years. She had bilateral hand deformities, and on evaluation, found to have ostium secundum atrial septal defect which is common cardiac defect in
Holt-Oram syndrome
.
...
PMID:Holt-Oram Syndrome: Hands are the Clue to the Diagnosis. 3168 53
