Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Parisi et al	2002	Am J med Genet A	51-56	108	Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?	11857550

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 2	Exon 18	c.2254G>A	p.Val752Met	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.2254G>A	p.Val752Met	Exon 18	(Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia	> 2 yrs