Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene-Reference-Cited by-同舟云学术

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene

Published:2017-07 Issue:7 Volume:60 Page:365-368
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bargiacchi Sara^ORCID,Della Monica Matteo,Biagiotti Roberto,Andreucci Elena,Ciabattoni Serena,Poggi Paolo,Di Maurizio Marco,Defilippi Claudio,Cariati Ettore,Giglio Sabrina

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference15 articles.

1. TRPC1 and TRPC6 channels cooperate with TRPV4 to mediate mechanical hyperalgesia and nociceptor sensitization;Alessandri-Haber;J. Neurosci.,2009

2. Committee opinion No. 656: guidelines for diagnostic imaging during pregnancy and lactation;American College of Obstetricians and Gynecologists' Committee on Obstetric Practice;Obstet. Gynecol.,2016

4. Nosology and classification of genetic skeletal disorders: 2015 revision;Bonafe;Am. J. Med. Genet.,2015

5. Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases;Chitayat;Am. J. Med. Genet. A,2008

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2. Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype;European Journal of Paediatric Neurology;2021-05

3. Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones;Balkan Journal of Medical Genetics;2018-12-01