Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Query: UMLS:C0037315 (
sleep apnea
)
8,000
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Pycnodysostosis is a rare genetic disease. Impaired osteoclastic function is the basis for typical phenotypic features and bone fragility. The main differential diagnosis is osteopetrosis, also associated with altered bone remodelling, but with a more severe prognosis. We describe the case of an 8-year-old boy who presented life-threatening obstructive
sleep apnoea
successfully managed with non-invasive ventilation. Haematological overlap phenotype included anaemia and altered bone marrow, more common in osteopetrosis. Molecular analysis of the
CTSK
gene revealed a mutation not previously described in the literature.
...
PMID:Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case. 2405 33
