Ehlers-Danlos syndrome, spondylodysplastic type
Definition:
References:
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[1]. Cecilia Giunta, et al. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet. 2008 Jun;82(6):1290-305. [Content Brief]
[2]. Marco Ritelli, et al. Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome. Orphanet J Rare Dis. 2017 Sep 7;12(1):153. [Content Brief]
[3]. Masahiro Nakajima, et al. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet. 2013 Jun 6;92(6):927-34. [Content Brief]
[4]. Muhammad Faiyaz-Ul-Haque, et al. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. Am J Med Genet A. 2004 Jul 1;128A(1):39-45. [Content Brief]
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