Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder also known as MIDAS (microphthalmia, dermal aplasia, and sclerocornea). Additional clinical features include neurological and cardiac abnormalities. MLS syndrome is genetically heterogeneous given that heteroz...

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Pubblicato in:Am J Hum Genet
Autori principali: van Rahden, Vanessa A., Fernandez-Vizarra, Erika, Alawi, Malik, Brand, Kristina, Fellmann, Florence, Horn, Denise, Zeviani, Massimo, Kutsche, Kerstin
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4385192/
https://ncbi.nlm.nih.gov/pubmed/25772934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.02.002
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