Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Hofstra et al.	2002	J. Med. Genet	el 1	39	Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?	11897831

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
n.a.	Intron 5	c.523+6T>G	none	Intronic variation	Non disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.523+6T>G	none	Intron 5	Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Mental retardation