ELOVL4

Publications

Zhang K et al. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet. 2001;27(1):89-93.  PMID: 11138005.

Bernstein P S et al. Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. Invest Ophthalmol Vis Sci. 2001;42(13):3331-6.  PMID: 11726641.

Maugeri A et al. A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy. Invest Ophthalmol Vis Sci. 2004;45(12):4263-7.  PMID: 15557430.

Aldahmesh M A et al. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet. 2011;89(6):745-50.  PMID: 22100072.

Monies D et al. (2017). The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017;136(8):921-939.  PMID: 28600779.

Cadieux-Dion M et al. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol. 2014;71(4):470-5.  PMID: 24566826.

Giroux J M et al. Erythrokeratodermia with ataxia. Arch Dermatol. 1972;106(2):183-8.  PMID: 5048218.

Ozaki K et al. A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34. JAMA Neurol. 2015;72(7):797-805.  PMID: 26010696.