PMC Articles for MedGen (Select 324580) - PMC

Select item 36732841.

Early Childhood Presentation of Czech Dysplasia

Lindsay C. Burrage, James T. Lu, David S. Liu, Timothy J. Moss, Richard Gibbs, Alan E. Schlesinger, Carlos A. Bacino, Philippe M. Campeau, Brendan H. Lee

Clin Dysmorphol. Author manuscript; available in PMC 2013 Jun 5.

Published in final edited form as: Clin Dysmorphol. 2013 Apr; 22(2): 76–80. doi: 10.1097/MCD.0b013e32835fff39

PMCID:: PMC3673284

Abstract Article PDF–1.3M

Select item 70191352.

Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia

Yang Xu, Li Li, Chun Wang, Hua Yue, Hao Zhang, Jiemei Gu, Weiwei Hu, Lianyong Liu, Zhenlin Zhang

Int J Biol Sci. 2020; 16(5): 859–868. Published online 2020 Jan 16. doi: 10.7150/ijbs.38811

PMCID:: PMC7019135

Abstract Article PDF–1.6M

Select item 106525623.

Case report: Whole exome sequencing and genome-wide methylation profiling of Czech dysplasia in a Chinese pedigree

Mengfei Zhao, Runrun Zhang, Cen Chang, Yehua Jin, Lingxia Xu, Shicheng Guo, Steven Schrodi, Yong He, Dongyi He

Front Med (Lausanne) 2023; 10: 1244888. Published online 2023 Nov 2. doi: 10.3389/fmed.2023.1244888

PMCID:: PMC10652562

Abstract Article PDF–880K

Select item 59102054.

Mutant cartilage oligomeric matrix protein (COMP) compromises bone integrity, joint function and the balance between adipogenesis and osteogenesis

Francoise Coustry, Karen L. Posey, Tristan Maerz, Kevin Baker, Annie M. Abraham, Catherine G. Ambrose, Sabah Nobakhti, Sandra J. Shefelbine, Xiaohong Bi, Michael Newton, Karissa Gawronski, Lindsay Remer, Alka C. Veerisetty, Mohammad G. Hossain, Frankie Chiu, Jacqueline T. Hecht

Matrix Biol. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Matrix Biol. 2018 Apr; 67: 75–89. Published online 2018 Jan 5. doi: 10.1016/j.matbio.2017.12.014

PMCID:: PMC5910205

Abstract Article PDF–1.0M

Select item 10014825.

A family with multiple musculoskeletal abnormalities.

K E Barber, P J Gow, K M Mayo

Ann Rheum Dis. 1984 Apr; 43(2): 275–278. doi: 10.1136/ard.43.2.275

PMCID:: PMC1001482

Summary Page Browse PDF–1.2M

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