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Syndromic microphthalmia type 5
- ... Kutsche K. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet. 2006 Nov;79(5):878-89. doi: 10.1086/508474. Epub 2006 ...
- ... Isolated HPE Non-syndromic, non-chromosomal holoprosencephaly Non-syndromic, non-chromosomal HPE Nonsyndromic HPE ... Dubourg C, Bendavid C, Pasquier L, ...