Publication

Hautala T, Heikkinen J, Kivirikko KI, Myllyla R, A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. Genomics15:399-404 1993
PubMed ID: 8449506

Records Return:  (2) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM01791Female9 YR105sisterEHLERS-DANLOS SYNDROME, TYPE VI
GM01790Female12 YR105probandEHLERS-DANLOS SYNDROME, TYPE VI