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American Journal of Human Genetics|February 24, 2009
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasiaDeborah Krakow, Joris Vriens, Natalia Camacho, et al.The Annals of Thoracic Surgery|October 30, 1999
Transmyocardial laser revascularization in the patient with unmanageable unstable anginaB G Hattler, B P Griffith, M A Zenati, et al.The Journal of Clinical Investigation|March 7, 2017
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasiaAdetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, et al.Nature Genetics|March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesisY Gong, D Krakow, J Marcelino, et al.Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|February 28, 2013
Next-generation sequencing for disorders of low and high bone mineral densityG Sule, P M Campeau, V W Zhang, et al.American Journal of Human Genetics|April 16, 1998
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrumM D Briggs, G R Mortier, W G Cole, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 15, 2013
Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutationJay R Shapiro, Caressa Lietman, Monica Grover, et al.Human Molecular Genetics|July 29, 2016
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndromeS Paige Taylor, Michaela Kunova Bosakova, Miroslav Varecha, et al.Nature Genetics|July 1, 2008
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmiaMatthew J Rock, Jean Prenen, Vincent A Funari, et al.Journal of Human Genetics|July 16, 2024
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type IIZheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, et al.Pageof 72