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Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of : a case report

机译：身材矮小，肩颈狭窄，髋关节发育不良和视网膜脱离：由C型前肽区域的新突变引起的非典型II型胶原病：一例病例报告

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1. Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1 : a case report [J] . Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, BMC Medical Genetics . 2016,第1期

机译：身材矮小，颈椎狭窄，髋关节发育不良和视网膜脱离：由COL2A1的C肽区域的新突变引起的非典型II型胶原病：病例报告
2. Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. [J] . Richards AJ, Morgan J, Bearcroft PW, Journal of Medical Genetics . 2002,第9期

机译：VitreoreTinopathy与phalangeal骨骺发育不良，II型胶原病由分子的C肽区域中的新突变引起的。
3. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. [J] . Zankl A, Neumann L, Ignatius J, American journal of medical genetics, Part A . 2005,第1期

机译：在COL2A1的C-肽中显着的负突变会导致肩突型致命性骨骼发育不良，扭曲型，并在2型胶原病中定义一个新的亚家族。
4. 3D Visualisation of the Radiological Features of Type II Collagenopathies associated with Skeletal Dysplasias [C] . Theodor Wyeld, Andreas Zankl International Conference on BioMedical Visualization . 2008

机译：与骨骼发育不良相关的II型胶原病的放射性特征的3D可视化
5. Short stature platyspondyly hip dysplasia and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report [O] . Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, 2016

机译：身材矮小颈椎狭窄髋关节发育不良和视网膜脱离：由COL2A1的C-前肽区域的新突变引起的非典型II型胶原病：病例报告
6. Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule [O] . Richards, A, Morgan, J, Bearcroft, P, 2002

机译：玻璃体视网膜病变伴指骨epi骨发育不良，一种II型胶原病，是由于该分子的C-前肽区域发生新的突变而引起的

Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of : a case report

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