Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Macias et al.	1992	Genet.	408-414	43	Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28	1605219

Mutations mentioned in reference

No mutations found.

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	7	c.3543-?_(*731_?)del	p.?	Intron 27	Adducted thumbs, Mental retardation, Spastic paraplegia