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Showing 37 to 37 of 37 entries
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Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome.

Open medicine (Warsaw, Poland)

Rakusiewicz K, Kanigowska K, Hautz W, Wicher D, Młynek M, Wyszyńska M, Rogowska A, Jędrzejczak-Młodziejewska J, Danowska M, Czeszyk A.
PMID: 33542958
Open Med (Wars). 2021 Jan 19;16(1):156-160. doi: 10.1515/med-2021-0208. eCollection 2021.

BACKGROUND: Cohen syndrome (Q87.8;ORPHA:193; OMIM#216550) is an autosomal recessive inherited genetic disorder caused by mutation in the MATERIAL AND METHODS: A 6-year-old Caucasian girl with facial dysmorphism, microcephaly, prominent upper incisors, narrow hands with slender fingers, congenital heart defect...

Showing 37 to 37 of 37 entries