Schneckenbecken dysplasia
Definition:
References:
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[1]. J J Varkey, et al. Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia. Ultrasound Obstet Gynecol. 2004 Oct;24(5):575-7. [Content Brief]
[2]. P G Nikkels, et al. Schneckenbecken dysplasia, radiology, and histology. Pediatr Radiol. 2001 Jan;31(1):27-30. [Content Brief]
[3]. Shuichi Hiraoka, et al. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med. 2007 Nov;13(11):1363-7. [Content Brief]
[4]. T Furuichi, et al. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet. 2009 Aug;46(8):562-8. [Content Brief]
[5]. Z Borochowitz, et al. A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. Am J Med Genet. 1986 Sep;25(1):47-59. [Content Brief]
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