Associated Papers
Mechanisms of aortic carboxypeptidase-like protein secretion and identification of an intracellularly retained variant associated with Ehlers-Danlos syndrome.
Vishwanath N et al.
The Journal of Biological Chemistry, 2020
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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