Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome-Reference-Cited by-同舟云学术

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

Published:2015-04 Issue:4 Volume:96 Page:640-650
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

van Rahden Vanessa A.,Fernandez-Vizarra Erika,Alawi Malik,Brand Kristina,Fellmann Florence,Horn Denise,Zeviani Massimo,Kutsche Kerstin

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference57 articles.

1. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases;Morleo;Am. J. Med. Genet. A.,2005

2. Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome;van Rahden;Orphanet J. Rare Dis.,2014

3. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome;Wimplinger;Am. J. Hum. Genet.,2006

4. Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea);Cape;Arch. Ophthalmol.,2004

5. An XX male with microphthalmos and sclerocornea;Kobayashi;J. Pediatr. Ophthalmol. Strabismus,1998

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