Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Rosenthal et al.	1992	Nat. Genet.	107-112	2	Aberrant splicing of neural cell adhesion molecule L1 messenger RNA in a family with X-linked hydrocephalus	1303258

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
n.a.	Intron 18	c.2432-19A>C	p.?	Branch point	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	3	c.2432-19A>C	p.?	Intron 18	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia