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Treft Sanborn Carey syndrome

MedGen UID:
419024
Concept ID:
C2931235
Disease or Syndrome
Synonyms: Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy
 

Recent clinical studies

Diagnosis

Ferré M, Caignard A, Milea D, Leruez S, Cassereau J, Chevrollier A, Amati-Bonneau P, Verny C, Bonneau D, Procaccio V, Reynier P
Hum Mutat 2015 Jan;36(1):20-5. Epub 2014 Dec 1 doi: 10.1002/humu.22703. PMID: 25243597

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