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
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DOI: 10.3389/fgene.2023.1102101
Abstract: The Ehlers–Danlos Syndromes (EDS), a group of hereditary connective tissue disorders, were classified into 13 subtypes in the 2017 International Classification. Recently, a new subtype of EDS called classical-like EDS type 2 (clEDS2), which is… read more here.
Keywords: collagen; patient; classical like; ehlers danlos ... See more keywords
Tenascin-X as a causal gene for classical-like Ehlers-Danlos syndrome
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DOI: 10.3389/fgene.2023.1107787
Abstract: Tenascin-X (TNX) is an extracellular matrix glycoprotein for which a deficiency results in a recessive form of classical-like Ehlers-Danlos syndrome (clEDS), a heritable connective tissue disorder with hyperextensible skin without atrophic scarring, joint hypermobility, and… read more here.
Keywords: danlos syndrome; tnx; classical like; ehlers danlos ... See more keywords
Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
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DOI: 10.3390/genes10020135
Abstract: Ehlers-Danlos syndrome (EDS) comprises clinically heterogeneous connective tissue disorders with diverse molecular etiologies. The 2017 International Classification for EDS recognized 13 distinct subtypes caused by pathogenic variants in 19 genes mainly encoding fibrillar collagens and… read more here.
Keywords: expanding clinical; classical like; danlos syndrome; clinical mutational ... See more keywords