Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations
Gen Nishimura(Musashino University), Andrea Superti‐Furga(University of Lausanne), André Mégarbané(University Medical Center Groningen), Francesco Benedicenti(Ospedale di Bolzano), Hiroshi Kitoh(Nagoya University), Bernhard Zabel(Johannes Gutenberg University Mainz), Tae‐Joon Cho(Seoul National University Children's Hospital), Sheila Unger(University of Lausanne), Margherita Silengo(University of Turin), Maren Schmidt‐Rimpler(University of Freiburg), F. Bedeschi(Ospedale Maggiore), Ekkehart Lausch(University Medical Center Freiburg), Jin Dai(Nanjing Drum Tower Hospital), Jürgen W. Spranger, Roberto Mendoza‐Londono(University of Toronto), Ok Hwa Kim(Ajou University Hospital), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences)
Cited by 82
Related Papers
The 2017 international classification of the Ehlers–Danlos syndromes
|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2017|1.9k
International nosology of heritable disorders of connective tissue, Berlin, 1986
|American Journal of Medical Genetics|1988|733
Nosology and classification of genetic skeletal disorders: 2010 revision
|American Journal of Medical Genetics Part A|2011|717
Nosology and classification of genetic skeletal disorders: 2019 revision
|American Journal of Medical Genetics Part A|2019|620