Hurler-Scheie phenotype with parental consanguinity. Report of an additional case supporting the concept of genetic heterogeneity.

Kaibara, N

Hurler-Scheie phenotype with parental consanguinity. Report of an additional case supporting the concept of genetic heterogeneity. [electronic resource] - Clinical orthopaedics and related research May 1983 - 233-6 p. digital

Publication Type: Case Reports; Journal Article

0009-921X


Adult
Carpal Tunnel Syndrome--complications
Consanguinity
Female
Homozygote
Humans
Iduronidase--genetics
Mucopolysaccharidoses--genetics
Mucopolysaccharidosis I--complications
Mutation
Phenotype