Associated Papers
Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases.
Ha ZY et al.
Genes, 2024
38674395 (PubMed )
Supplement: genes-15-00461-s001.zip › genes-2928487-supplementary.pdf
The detailed obstetric course of the first Japanese patient with AEBP1-related Ehlers-Danlos syndrome (classical-like EDS, type 2).
Sanai H et al.
The Journal of Obstetrics and Gynaecology Research, 2023
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
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
Select a paper to view details