The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)

Nosology and classification of genetic skeletal disorders: 2010 revision

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

DominantTRPV4mutations in nonlethal and lethal metatropic dysplasia

(2010) Natalia Camacho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Transient receptor potential vanilloid 4

(2010) Farshid Guilak et al.   Annals of the New York Academy of Sciences

The skeletal dysplasias

(2010) Deborah Krakow et al.   GENETICS IN MEDICINE

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

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

Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature

(2008) D. Geneviève et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TRPV4-Mediated Calcium Influx Regulates Terminal Differentiation of Osteoclasts

(2008) Ritsuko Masuyama et al.   Cell Metabolism

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

(2008) Matthew J Rock et al.   NATURE GENETICS