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American Journal of Human Genetics|June 2, 2015
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defectsCraig F Munns, Somayyeh Fahiminiya, Nabin Poudel, et al.
The Journal of Biological Chemistry|July 26, 2003
Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosisAnnemarie J van der Slot, Anne-Marie Zuurmond, Alfons F J Bardoel, et al.
Human Molecular Genetics|April 4, 2007
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type SchmidMatthew S P Ho, Kwok Yeung Tsang, Rebecca L K Lo, et al.
American Journal of Human Genetics|May 29, 2018
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3Sophia R Cameron-Christie, Constance F Wells, Marleen Simon, et al.
Lancet (London, England)|August 10, 2013
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trialNick Bishop, Silvano Adami, S Faisal Ahmed, et al.
The New England Journal of Medicine|August 10, 2017
NAD Deficiency, Congenital Malformations, and Niacin SupplementationHongjun Shi, Annabelle Enriquez, Melissa Rapadas, et al.
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