Sjogren-Larsson syndrome

OMIM:270200
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	ALDH3A2
Reference transcript	NM_000382.2
DNA Change	c.325G>A
A.A. Change	p.Gly109Arg
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Rafai MA, Boulaajaj FZ, Seito A, Suga Y, Slassi I, Fadel H.[Sjogren-Larsson syndrome: a novel mutation in a Moroccan child]. Arch Pediatr. 2008 Nov;15(11):1648-51.

---