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:C0016719 (
Friedreich's ataxia
)
2,098
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Three children with hair-shaft abnormalities and neurological disorders are reported. The first case is a young girl with monilethrix and
Friedreich's ataxia
that presented IgG and IgA deficiency, without telangiectasis. The second patient is a young girl with monilethrix and HMSN I. The third patient is a boy with a peculiar face,
hypotrichosis
and pili torti; he was mentally retarded and had epileptic seizures. His diagnosis was compatible with Noonan's syndrome or with a cardio-facio-cutaneous syndrome, because of the existence of hyperkeratosis and the neurological features. It is our aim to emphasize the heterogeneity of neurotrichosis, whose limits are not well established and whose manifestations are shared by some of them.
...
PMID:[Hair disorders and neurological impairments (neurotricosis): three new cases]. 749 1
