Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Straussberg et al.	1991	Clin. Genet.	337-341	40	X-linked mental retardation with bilateral clasped thumbs: report of another affected family	1756607

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 3	Exon 8	c.925G>A	p.Glu309Lys	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	2	c.925G>A	p.Glu309Lys	Exon 8	Adducted thumbs, Mental retardation, Spastic paraplegia