Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?-Reference-Cited by-同舟云学术

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

Published:2011-09-30 Issue:11 Volume:155 Page:2860-2864
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Unger Sheila,Lausch Ekkehart,Stanzial Franco,Gillessen-Kaesbach Gabriele,Stefanova Irina,Di Stefano Cristina Maria,Bertini Enrico,Dionisi-Vici Carlo,Nilius Bernd,Zabel Bernhard,Superti-Furga Andrea

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C;Auer-Grumbach;Nat Genet,2010

3. Incidence of fetal akinesia-hypokinesia deformation sequence: A population-based study;Bayat;Acta Paediatr,2009

4. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene;Chen;Neurology,2010

5. TRVP4-pathy manifesting both skeletal dysplasia and peripheral neuropathy;Cho;Am J Med Genet,2011

Cited by 31 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification and Properties of TRPV4 Mutant Channels Present in Polycystic Kidney Disease Patients;Function;2024

2. Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report;Cureus;2023-08-13

3. Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series;Neuromuscular Diseases;2023-06-15

4. TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function;Annals of Clinical and Translational Neurology;2022-02-16

5. Role of TRPV4 in skeletal function and its mutant-mediated skeletal disorders;Role of TRPV4 Channels in Different Organ Systems;2022