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American Journal of Medical Genetics. Part A|October 26, 2011
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)Lisenka E L M Vissers, Virginia Fano, Diego Martinelli, et al.
Nature Genetics|January 11, 2011
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunityEkkehart Lausch, Andreas Janecke, Matthias Bros, et al.
Bone|July 16, 2023
Identification of potential non-invasive biomarkers in diastrophic dysplasiaChiara Paganini, Ricki S Carroll, Chiara Gramegna Tota, et al.
American Journal of Human Genetics|September 26, 2003
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosisSandra Hanks, Sarah Adams, Jenny Douglas, et al.
Nature Genetics|July 26, 2003
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcificationFrank Rutsch, Nico Ruf, Sucheta Vaingankar, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
The New England Journal of Medicine|January 22, 2010
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210Patrick Smits, Andrew D Bolton, Vincent Funari, et al.
American Journal of Human Genetics|January 24, 2004
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndromeNathalie Dagoneau, Deborah Scheffer, Céline Huber, et al.
Human Mutation|September 17, 2011
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionGail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, et al.
European Journal of Human Genetics : EJHG|February 17, 2021
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K<sup>+</sup> channelopathiesKaren W Gripp, Sarah F Smithson, Ingrid J Scurr, et al.
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