Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures
A.A. Mahmud, N.A. Nahid, C. Nassif, M.S.B. Sayeed, M.U. Ahmed, M. Parveen, M.I. Khalil, M.M. Islam, Z. Nahar, F. Rypens, F.F. Hamdan, G.A. Rouleau, A. Hasnat and J.L. Michaud
Version of Record online: 16 SEP 2016 | DOI: 10.1111/cge.12850
Identification of a homozygous truncating PIEZO2 mutation in three affected siblings from a consanguineous family showing short stature, scoliosis, gross motor impairment, a progressive form of contractures involving the distal joints and deficits in proprioception and touch sensation.