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

scientific article published on 14 March 2012

TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/AJMG.A.35268
P698PubMed publication ID22419508

P50authorTae-Joon ChoQ42525604
P2093author name stringShiro Ikegawa
Yuji Tanaka
Jin Dai
Gen Nishimura
Ekkehart Lausch
Jong Hee Chae
Kazu Matsumoto
Katsuji Shimizu
Won Joon Yoo
Soledad Monges
Yoshito Matsui
Bernhard Zabel
Ok-Hwa Kim
Iori Takigami
Virginia Fano
P433issue4
P921main subjectperipheral neuropathyQ945238
P304page(s)795-802
P577publication date2012-03-14
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleTRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients
P478volume158A

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cites work (P2860)
Q93089634Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones
Q63170642Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation
Q92698690Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant
Q35153852Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance
Q64122769Homozygous mutation causes congenital distal spinal muscular atrophy and arthrogryposis
Q36514432Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation
Q36738586Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy
Q64043176Novel variant causes a severe form of metatropic dysplasia
Q35680803Phenotypic variability of TRPV4 related neuropathies
Q46537959SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae
Q33355032The puzzle of TRPV4 channelopathies
Q36584629Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias

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