Gene/Protein
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Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0086543 (
cataract
)
29,165
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Myhre syndrome
is a very rare condition described thirty years ago and related to mutations in the SMAD4 gene. It has been reported in 19 patients, including 13 males and 6 females before the recent finding of heterozygous mutations in the SMAD4 gene in 19 patients. It is characterized by mental retardation, short stature, muscle hypertrophy, limitation of joints movements, deafness, skeletal anomalies, and facial dysmorphism. Ophthalmological involvement includes hypermetropia and congenital
cataract
. We report here the new finding of retinal involvement including retinitis pigmentosa and maculopathy in two unrelated patients with
Myhre syndrome
. The patient with retinitis pigmentosa carried the p.I500T mutation in SMAD4, but no mutation was found in the patient with the maculopathy.
...
PMID:Retinal involvement in two unrelated patients with Myhre syndrome. 2268 61
