Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Yeatman1984Am. J. Med. Genet.339-34417Mental retardation-clasped thumb syndrome 6538754

Mutations mentioned in reference

No mutations found.

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 6 c.3531-12G>A p.?Intron 26 Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia All patients: > 1 yr