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Menkes’ syndrome: Ophthalmic findings

✍ Scribed by Alice T Gasch; Rafael C Caruso; Stephen G Kaler; Muriel Kaiser-Kupfer


Book ID
117327854
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
89 KB
Volume
109
Category
Article
ISSN
0161-6420

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## Abstract A high frequency of the Cohen syndrome has been observed in a Greek island with 2,000 inhabitants and a high degree of inbreeding. All patients were homozygous for a __COH1__, exon 6–16 deletion suggesting a founder effect. We present the results of their first systematic ophthalmologic