TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 795-802

  Cho, Tae Joon ^a   Matsumoto, Kazu ^b   Fano, Virginia ^c   Dai, Jin ^d   Kim, Ok Hwa ^e   Chae, Jong Hee ^a   Yoo, Won Joon ^a   Tanaka, Yuji ^f   Matsui, Yoshito ^g   Takigami, Iori ^b   Monges, Soledad ^c   Zabel, Bernhard ^h   Shimizu, Katsuji ^b   Nishimura, Gen ⁱ   Lausch, Ekkehart ^h   Ikegawa, Shiro ^d  

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

^b GIFU UNIVERSITY   (Japan)

^c HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^d RIKEN   (Japan)

^e Ajou University Medical Center   (South Korea)

^f Department of Neurology   (Japan)

^g TOYAMA MEDICAL AND PHARMACEUTICAL UNIVERSITY   (Japan)

^h UNIVERSITY OF FREIBURG   (Germany)

ⁱ TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Axonal type peripheral neuropathy; Skeletal dysplasia; TRPV4

Indexed keywords

VANILLOID RECEPTOR 4;

ADOLESCENT; ADULT; ARTICLE; BONE DYSPLASIA; BONE MALFORMATION; BONE RADIOGRAPHY; CASE REPORT; CHILD; CLINICAL FEATURE; CLUBFOOT; DISEASE ASSOCIATION; DISEASE COURSE; ELECTROMYOGRAPHY; FEMALE; GAIT DISORDER; GENE; GENOTYPE PHENOTYPE CORRELATION; HIP PAIN; HUMAN; ISCHIALGIA; KNEE OSTEOARTHRITIS; METATARSAL BONE; MISSENSE MUTATION; MOLECULAR DYNAMICS; MOTOR NERVE CONDUCTION; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENICITY; PERIPHERAL NEUROPATHY; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFECT; SENSORY NERVE CONDUCTION; TRPV4 GENE;

ADOLESCENT; BONE DISEASES, DEVELOPMENTAL; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MUTATION, MISSENSE; PERIPHERAL NERVOUS SYSTEM DISEASES; TRPV CATION CHANNELS;

EID: 84863398713     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35268     Document Type: Article

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