Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1443-1449

  Nishimura, Gen ^a   Dai, Jin ^b,c   Lausch, Ekkehart ^d   Unger, Sheila ^d   Megarbané, André ^e   Kitoh, Hiroshi ^f   Kim, Ok Hwa ^g   Cho, Tae Joon ^h   Bedeschi, Francesca ⁱ   Benedicenti, Francesco ^j   Mendoza Londono, Roberto ^k   Silengo, Margherita ^l   Schmidt Rimpler, Maren ^d   Spranger, Jurgen ^d   Zabel, Bernhard ^d   Ikegawa, Shiro ^b   Superti Furga, Andrea ^d  

^a TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^b RIKEN   (Japan)

^c MEDICAL SCHOOL OF NANJING UNIVERSITY   (China)

^d UNIVERSITY OF FREIBURG   (Germany)

^e SAINT JOSEPH UNIVERSITY   (Lebanon)

^f NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g Ajou University Medical CentSuwon   (South Korea)

^h Seoul National University Children's Hospital   (South Korea)

ⁱ FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^j General Regional Hospital   (Italy)

^k HOSPITAL FOR SICK CHILDREN   (Canada)

^l UNIVERSITY OF TURIN   (Italy)

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Author keywords

Dominant inheritance; Morquio; Skeletal dysplasia; Spondylo epiphyseal dysplasia; TRPV4

Indexed keywords

AMINO ACID; GENOMIC DNA; LEUCINE; PROLINE;

ADULT; ANAMNESIS; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; DYSPLASIA; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; MAROTEAUX LAMY SYNDROME; PARASTREMMATIC DYSPLASIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENT DISEASE; SCHOOL CHILD; SPONDYLOEPIPHYSEAL DYSPLASIA; TRPV4 GENE;

ADULT; CHILD; FEMALE; GENETIC VARIATION; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS II; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; TRPV CATION CHANNELS;

EID: 77952751595     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33414     Document Type: Article

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