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Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

The microphthalmia with linear skin defects syndrome (MLS, or MIDAS) is an X-linked dominant male-lethal disorder almost invariably associated with segmental monosomy of the Xp22 region. In two female patients, from two families, with MLS and a normal karyotype, we identified heterozygous de novo po...

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Detalhes bibliográficos
Main Authors: Wimplinger, Isabella, Morleo, Manuela, Rosenberger, Georg, Iaconis, Daniela, Orth, Ulrike, Meinecke, Peter, Lerer, Israela, Ballabio, Andrea, Gal, Andreas, Franco, Brunella, Kutsche, Kerstin
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698567/
https://ncbi.nlm.nih.gov/pubmed/17033964
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