Zobrazeno 1 - 10
of 44
pro vyhledávání: '"spondylocarpotarsal synostosis syndrome"'
Autor:
Stephen P. Robertson, Emma M. Wade, David Markie, Padmini Parthasarathy, Kalpana Gowrishankar, Kaya Fukushima, Timothy R. Morgan
Publikováno v:
Genes, Vol 12, Iss 528, p 528 (2021)
Genes
Genes
Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in FLNB, MYH3, and possibly in RFLNA, have been reported to be res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae6b98e9f7ddc1b072650acb7ccbfbc8
https://www.mdpi.com/2073-4425/12/4/528
https://www.mdpi.com/2073-4425/12/4/528
Autor:
Kristiina Avela, Johanna Lehtonen, Henrikki Almusa, Jukka S. Moilanen, Eveliina Jakkula, Kristiina Aittomäki, Sirpa Kivirikko, Anna H. Hakonen, Janna Saarela, Reetta Kivisaari, Riikka Keski-Filppula
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(11)
The multiple pterygium syndromes (MPS) are rare disorders with disease severity ranging from lethal to milder forms. The nonlethal Escobar variant MPS (EVMPS) is characterized by multiple pterygia and arthrogryposis, as well as various additional fea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ae4f8b65ba48170135edeb361dce3a5
https://pubmed.ncbi.nlm.nih.gov/32902138
https://pubmed.ncbi.nlm.nih.gov/32902138
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 7, Iss 9, Pp 2031-2032 (2013)
Spondylocarpotarsal synostosis syndrome (SSS) is an autosomal recessive condition which is characterized by short stature, a carpotarsal coalition and a vertebral fusion, but without any rib anomaly. We are presenting a 7– year– old boy, who had
Externí odkaz:
https://doaj.org/article/4457ef94bdd04a368e4aa10a0d346fcd
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Akademický článek
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Publikováno v:
International Journal of Osteoarchaeology. 23:359-366
Spondylocarpotarsal synostosis syndrome (SCT) is a rare genetic disease. It was described for the first time during the 1970s. The most relevant pathognomonic skeletal changes are vertebral malsegmentation and the fusion of the carpal and tarsal bone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2d1028b219768b2c73892badca4df52
https://doi.org/10.1002/oa.1259
https://doi.org/10.1002/oa.1259
Autor:
Marleen Simon, Eva Trevisson, Marja W. Wessels, Stephen P. Robertson, Riku Takei, Matteo Cassina, David Markie, Constance Wells, Kathrin Ludkig, Melanie Bahlo, Wenhua Wei, Sarah A. Sandaradura, David Sillence, Candy Z.N. Tang, Sophia R. Cameron-Christie, Zandra A. Jenkins, Coranne Aarts-Tesselaar, Hermine E. Veenstra-Knol, Marie-Pierre Cordier
Publikováno v:
American Journal of Human Genetics, 102(6), 1115. Cell Press
American Journal of Human Genetics, 102(6), 1115-1125. CELL PRESS
American Journal of Human Genetics, 102(6), 1115-1125. Cell Press
American Journal of Human Genetics, 102(6), 1115-1125. CELL PRESS
American Journal of Human Genetics, 102(6), 1115-1125. Cell Press
Spondylocarpotarsal synostosis syndrome (SCTS) is characterized by intervertebral fusions and fusion of the carpal and tarsal bones. Biallelic mutations in FLNB cause this condition in some families, whereas monoallelic variants in MYH3, encoding emb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::836c1f575f6bd54c57d61a339e68f235
https://hdl.handle.net/1874/377027
https://hdl.handle.net/1874/377027
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 7, Iss 9, Pp 2031-2032 (2013)
Spondylocarpotarsal synostosis syndrome (SSS) is an autosomal recessive condition which is characterized by short stature, a carpotarsal coalition and a vertebral fusion, but without any rib anomaly. We are presenting a 7- year- old boy, who had urol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d2c0fdf75eb649d40c41b50a91763c
https://doi.org/10.7860/jcdr/2013/5605.3398
https://doi.org/10.7860/jcdr/2013/5605.3398
Autor:
Debasish Patro, Mamata Singh, Swayamsidha Mangaraj, Arun Kumar Choudhury, Anoj Kumar Baliarsinha
Publikováno v:
Clinical Cases in Mineral and Bone Metabolism. 14:258
Spondylocarpotarsal synostosis is a very rare skeletal disorder characterized by vertebral malsegmentation defects. Apart from severe vertebral defects, the disease is associated with carpal and tarsal synostosis which is quite characteristic for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74055396cd89e60f49056fbd0f588ccc
https://doi.org/10.11138/ccmbm/2017.14.2.258
https://doi.org/10.11138/ccmbm/2017.14.2.258