Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Jouet and Kenwrick	1995c	Lancet	161-162	345	Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus	7823673

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
n.a.	Intron 1	c.76+1G>T	p.?	Splice site	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.76+1G>T	p.?	Intron 1	Adducted thumbs, Hydrocephalus, Mental retardation