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The Journal of Investigative Dermatology|September 18, 2004
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 geneAlain Colige, Lieve Nuytinck, Ingrid Hausser, et al.
American Journal of Human Genetics|May 14, 2013
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorderFransiska Malfait, Ariana Kariminejad, Tim Van Damme, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 18, 2017
The Ehlers-Danlos syndromes, rare typesAngela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, et al.
The Journal of Pediatrics|May 9, 2013
Copper deficiency in patients with cystinosis with cysteamine toxicityMartine T P Besouw, Jerry Schneider, Mirian C Janssen, et al.
European Journal of Medical Genetics|July 2, 2022
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)Ingrid M B H van de Laar, Annette F Baas, Julie De Backer, et al.
Orphanet Journal of Rare Diseases|December 31, 2011
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotypeFreya K R Swinnen, Paul J Coucke, Anne M De Paepe, et al.
HGG Advances|January 20, 2022
Biallelic variants in <i>MESD</i>, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfectaThao T Tran, Rachel B Keller, Brecht Guillemyn, et al.
Clinical Genetics|December 4, 2019
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlapSilvia Morlino, Lucia Micale, Marco Ritelli, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|November 22, 2018
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiencyHassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 8, 2018
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathiesCharlotte Gistelinck, Ronald Y Kwon, Fransiska Malfait, et al.
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