Gene/Protein Disease Symptom Drug Enzyme Compound
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Report of 2 cases of Rubinstein-Taybi-syndrome. Description of the well known symptoms: Mental and somatic retardation, broad thumbs and toes, highly arched palate, retarded bone age, fine hair on limbs. Besides that there were eye abnormalities: Antimongoloid slant, strabismus, ametropia, monolateral ptosis, papillatrophia, latent nystagmus. Discussion of the differential diagnosis.
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PMID:[Ocular symptoms in Rubinstein-Taybi-syndrome (author's transl)]. 121 29