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Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2141791
Abstract: ABSTRACT Background Distal Arthrogryposis type 5D (DA5D) is a rare genetic disease, expressed phenotypically by skeletal and ocular abnormalities. Materials and methods Two sisters, ages 42 and 46 years old, were ascertained, both diagnosed with arthrogryposis…
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Keywords:
long term;
ophthalmic complications;
arthrogryposis type;
distal arthrogryposis ... See more keywords