SR65

Pseudoxanthoma Elasticum (IID2)

Female

Female

SR65

Pseudoxanthoma Elasticum (IID2)

Female

Female

Highlighted Images

Age at visit: 58 years
OD OS

Pedigree

Age at visit: 41 years
Age at visit: 53 years
Age at visit: 54 years
Age at visit: 54 years (Visit 2)
Age at visit: 56 years
Age at visit: 57 years
Age at visit: 58 years
Age at visit: 60 years
Age at visit: 63 years
Age at visit: 64 years
Age at visit: 64 years (Visit 2)
Age at visit: 64 years (Visit 3)
Age at visit: 64 years (Visit 4)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pseudoxanthoma Elasticum ABCC6 Gly928 del4tacGGCA IVS21+1 G>T AR
Gene:
Allele 1:
Gly928 del4tacGGCA
Allele 2:
IVS21+1 G>T
Inheritance:
AR
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