Associated Papers
Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants.
Angwin C et al.
Frontiers in Genetics, 2023
Case report: further delineation of AEBP1-related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature.
Yamaguchi T et al.
Frontiers in Genetics, 2023
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.
Colman M et al.
Human Mutation, 2021
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