Zobrazeno 1 - 10
of 127
pro vyhledávání: '"Metatropic Dysplasia"'
Publikováno v:
Sri Lanka Journal of Medicine, Vol 32, Iss 1, Pp 51-54 (2023)
Metatropic dysplasia is a rare form of skeletal dysplasia in which characteristic clinical and imaging features are found at birth. The short limbs with relatively long trunk seen in the neonatal period change to short trunk in childhood due to progr
Externí odkaz:
https://doaj.org/article/229a10c4a41c4a74b247522f1dd7a6c1
Publikováno v:
Malaysian Orthopaedic Journal, Vol 16, Iss 2, Pp 145-149 (2022)
We report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p. (Trp785Cys) with mesomelic shortening, odontoid hypoplasia, multiple joint contractures, thoracolumbar kyphosis, pectus carinatum, halberd pelvis, and
Externí odkaz:
https://doaj.org/article/9153a043890a4c2daa3cb47cae90a64a
Publikováno v:
Orthopaedic Surgery, Vol 12, Iss 1, Pp 333-336 (2020)
Metatropic dysplasia (MD), is a rare skeletal dysplasia occurring predominantly in infants characterized by a distinctive long torso and short limbs; it is as a result of mutations in the TRPV4 gene. However, a clear distinction between various forms
Externí odkaz:
https://doaj.org/article/9cc4ab1b948b4984aef725b53ab84817
Autor:
Xiao Sun, Hiroki Kato, Hiroshi Sato, Michiko Torio, Xu Han, Yu Zhang, Yuta Hirofuji, Takahiro A. Kato, Yasunari Sakai, Shouichi Ohga, Satoshi Fukumoto, Keiji Masuda
Publikováno v:
Biochemistry and Biophysics Reports, Vol 26, Iss , Pp 100968- (2021)
Transient receptor potential vanilloid member 4 (TRPV4) is a Ca2+ permeable nonselective cation channel, and mutations in the TRPV4 gene cause congenital skeletal dysplasias and peripheral neuropathies. Although TRPV4 is widely expressed in the brain
Externí odkaz:
https://doaj.org/article/8edf13f819df42e5a7350896ce8beec5
Autor:
Gucev Z, Kalcev G, Laban N, Bozinovski Z, Popovski N, Saveski A, Daskalov B, Plaseska-Karanfilska D, Tasic V
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 35-38 (2018)
Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the TRPV4 gene. We describe a 28-month-old boy with knock-knees referred for metabolic investigation suspected of carrying vitamin D-resistant rickets. H
Externí odkaz:
https://doaj.org/article/7d14e12ffd774141aa92b9c4b0ad8f94
Autor:
Yu Zhang, Shouichi Ohga, Yasunari Sakai, Yuta Hirofuji, Takahiro A. Kato, Xiao Sun, Hiroki Kato, Satoshi Fukumoto, Michiko Torio, Xu Han, Hiroshi Sato, Keiji Masuda
Publikováno v:
Biochemistry and Biophysics Reports, Vol 26, Iss, Pp 100968-(2021)
Biochemistry and Biophysics Reports
Biochemistry and Biophysics Reports
Transient receptor potential vanilloid member 4 (TRPV4) is a Ca2+ permeable nonselective cation channel, and mutations in the TRPV4 gene cause congenital skeletal dysplasias and peripheral neuropathies. Although TRPV4 is widely expressed in the brain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e7484a1b152db4bf386d6ea61d2f874
http://www.sciencedirect.com/science/article/pii/S2405580821000625
http://www.sciencedirect.com/science/article/pii/S2405580821000625
Publikováno v:
Oman Medical Journal, Vol 28, Iss 6, Pp 445-447 (2013)
Metatropic dysplasia is a rare but severe spondyloepimetaphyseal dysplasia characterized by long trunk and short extremities. The exact incidence is not known; however, 81 cases have been reported in the literature till now. Due to progressive kyphos
Externí odkaz:
https://doaj.org/article/3c0c8275fc8b4f87851dc7be4d2e95f0
Autor:
Hiromi Edo, Hiroshi Matsumoto, Soichiro Tamada, Taro Yamashita, Fumiko Hamabe, Hiroshi Shinmoto, Koji Sumi
Publikováno v:
BJR | Case Reports
Metatropic dysplasia (MD) is a rare skeletal disorder characterized by short stature due to epiphyseal cartilage and growth plate abnormalities. The severity of MD varies from mild to lethal. This disorder is caused by mutations in the transient rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b046a1026f5f9e7285d3e6f3a4350a4
http://europepmc.org/articles/PMC8008457
http://europepmc.org/articles/PMC8008457
Autor:
Dijana Plaseska-Karanfilska, Tasic, Bozinovski Z, Zoran Gucev, Daskalov B, Laban N, Popovski N, Kalcev G, Saveski A
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 35-38 (2018)
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics : BJMG
Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the TRPV4 gene. We describe a 28-month-old boy with knock-knees referred for metabolic investigation suspected of carrying vitamin D-resistant rickets. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11a916bdf9d3009193ed12df1f0ab70b
https://doaj.org/article/7d14e12ffd774141aa92b9c4b0ad8f94
https://doaj.org/article/7d14e12ffd774141aa92b9c4b0ad8f94
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