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
Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome.
Ritelli M et al.
Genes, 2019
A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.
Hebebrand M et al.
American Journal of Medical Genetics. Part A, 2019
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Blackburn PR et al.
American Journal of Human Genetics, 2018
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