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

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutant TRPV4-mediated Toxicity Is Linked to Increased Constitutive Function in Axonal Neuropathies

(2011) Faisal Fecto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

(2011) Elena Andreucci et al.   Orphanet Journal of Rare Diseases

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

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

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

Incidence of fetal akinesia-hypokinesia deformation sequence: a population-based study

(2008)   ACTA PAEDIATRICA

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

(2008) Matthew J Rock et al.   NATURE GENETICS