[Three adult siblings of Gaucher's disease with corneal opacities, deafness, valvular heart disease, deformed toes, communicating hydrocephalus and leptomeningeal thickening].
Uyama
E
E
Araki
S
S
Kawasaki
S
S
Okamura
R
R
Owada
M
M
D000328:Adult; D003318:Corneal Opacity; D003638:Deafness; D005260:Female; D005530:Foot Deformities; D005776:Gaucher Disease / Q000175:diagnosis / Q000235:genetics*; D006349:Heart Valve Diseases; D006801:Humans; D006849:Hydrocephalus; D008297:Male