Reference details

Schrander-Stumpel et al.1990J. Med. Genet.688-69227MASA syndrome: new clinical features and linkage analysis using DNA probes 2277384

Mutations mentioned in reference

No mutations found.


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 3 c.3581C>T p.Ser1194LeuExon 28 MASA syndrome 2 MASA patients, 1 HSAS patient (died at the age of 15 yrs)