Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Fransen et al.	1994	Hum. Mol. Genet.	2255-2256	3	X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene	7881431

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Cytopl.	Exon 28	c.3581C>T	p.Ser1194Leu	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	3	c.3581C>T	p.Ser1194Leu	Exon 28	MASA syndrome	2 MASA patients, 1 HSAS patient (died at the age of 15 yrs)