Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Jackson et al.	2009	Pediatr Surg Int	823-825	25(9)	L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease	19641926

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 6	Exon 13	c.1672C>T	p.Arg558X	Nonsense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.1672C>T	p.Arg558X	Exon 13	Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia, Spastic paraplegia