Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Kaepernick et al.	1994	Clin. Genet.	181-185	45	Clinical aspects of MASA syndrome in a large family, including expressing females	8062435

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 4	Exon 9	c.1108G>A	p.Gly370Arg	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	19	c.1108G>A	p.Gly370Arg	Exon 9	Hydrocephalus, ?	Family with variable manifestations of clinical symptoms from Hydrocephalus to MASA syndrome