Author:
van Rahden Vanessa A,Rau Isabella,Fuchs Sigrid,Kosyna Friederike K,de Almeida Hiram Larangeira,Fryssira Helen,Isidor Bertrand,Jauch Anna,Joubert Madeleine,Lachmeijer Augusta M A,Zweier Christiane,Moog Ute,Kutsche Kerstin
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Reference53 articles.
1. Morleo M, Franco B: Microphthalmia with Linear Skin Defects Syndrome. GeneReviews™. Edited by: Pagon RA AM, Bird TD, Dolan CR, Fong CT, Stephens K. 2009, Seattle: University of Washington, Seattle
2. Wapenaar MC, Bassi MT, Schaefer L, Grillo A, Ferrero GB, Chinault AC, Ballabio A, Zoghbi HY: The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum Mol Genet. 1993, 2: 947-952. 10.1093/hmg/2.7.947.
3. Wapenaar MC, Schiaffino MV, Bassi MT, Schaefer L, Chinault AC, Zoghbi HY, Ballabio A: A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22. Hum Mol Genet. 1994, 3: 1155-1161. 10.1093/hmg/3.7.1155.
4. Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, 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, 79: 878-889. 10.1086/508474.
5. Wimplinger I, Shaw GM, Kutsche K: HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?. Mol Vis. 2007, 13: 1475-1482.
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