Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Wilson et al.	2009	Genet Test Mol Biomarkers	515-519	13(4)	Prenatal identification of a novel R937P L1CAM missense mutation	19594370

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 5	Exon 21	c.2810G>C	p.Arg937Pro	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.2810G>C	p.Arg937Pro	Exon 21	Hydrocephalus	Contractures of the feet, hyperactive reflexes with ankle and knee clonus. Died at 4 months