Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Author:

Ratbi Ilham,Falkenberg Kim D.,Sommen Manou,Al-Sheqaih Nada,Guaoua Soukaina,Vandeweyer Geert,Urquhart Jill E.,Chandler Kate E.,Williams Simon G.,Roberts Neil A.,El Alloussi Mustapha,Black Graeme C.,Ferdinandusse Sacha,Ramdi Hind,Heimler Audrey,Fryer Alan,Lynch Sally-Ann,Cooper Nicola,Ong Kai Ren,Smith Claire E.L.,Inglehearn Christopher F.,Mighell Alan J.,Elcock Claire,Poulter James A.,Tischkowitz Marc,Davies Sally J.,Sefiani Abdelaziz,Mironov Aleksandr A.,Newman William G.,Waterham Hans R.,Van Camp Guy

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference45 articles.

1. Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs;Heimler;Am. J. Med. Genet.,1991

2. Amelogenesis imperfecta, sensorineural hearing loss, and Beau’s lines, a second case report of Heimler’s syndrome;Tischkowitz;J. Med. Genet.,1999

3. Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler’s syndrome;Pollak;Clin. Dysmorphol.,2003

4. Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls;Ong;Eur. J. Med. Genet.,2006

5. Macular dystrophy in Heimler syndrome;Lima;Ophthalmic Genet.,2011

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