Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Piccione et al.	2009	Eur J Pediatr	1-5	Epub ahead of print	A novel L1CAM mutation in a fetus detected by prenatal diagnosis	19685344

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 6	Exon 14	c.1777G>C	p.Ala593Pro	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	3	c.1777G>C	p.Ala593Pro	Exon 14	(Dys)agenesis corpus callosum, Hydrocephalus	Terminated pregnancy