A family of distal arthrogryposis type 5 due to a novelPIEZO2mutation

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

(2014) Margaret J. McMillin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

(2013) B. Coste et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

(2012) Margaret J. McMillin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

(2012) Klaus Dieterich et al.   HUMAN MOLECULAR GENETICS

A dominantly inherited form of arthrogryposis multiplex congenita with unusual dermatoglyphics

(2010) George H. Sack   CLINICAL GENETICS

Mechanosensitive Channels: In Touch with Piezo

(2010) Rui Xiao et al.   CURRENT BIOLOGY

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

(2010) Christina A. Gurnett et al.   HUMAN MOLECULAR GENETICS

Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels

(2010) B. Coste et al.   SCIENCE

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5

(2009) Marco Castori et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Arthrogryposis: A Review and Update

(2009) Michael Bamshad et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME