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

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

(2011) Sheila Unger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation

(2011) José Berciano et al.   JOURNAL OF NEUROLOGY

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

(2011) C. J. Klein et al.   NEUROLOGY

Increased Basal Activity Is a Key Determinant in the Severity of Human Skeletal Dysplasia Caused by TRPV4 Mutations

(2011) Stephen Loukin et al.   PLoS One

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

(2010) Magdalena Zimoń et al.   BRAIN

TRPV4-pathy, a novel channelopathy affecting diverse systems

(2010) Jin Dai et al.   JOURNAL OF HUMAN GENETICS

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

(2010) J. Dai et al.   JOURNAL OF MEDICAL GENETICS

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

(2010) D.- H. Chen et al.   NEUROLOGY

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

(2009) Deborah Krakow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

(2009) Ekkehart Lausch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

(2009) Michaela Auer-Grumbach et al.   NATURE GENETICS

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

(2009) Han-Xiang Deng et al.   NATURE GENETICS

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

(2009) Guida Landouré et al.   NATURE GENETICS

The vanilloid transient receptor potential channel TRPV4: From structure to disease

(2009) Wouter Everaerts et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

(2008) Matthew J Rock et al.   NATURE GENETICS