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Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome.
Watanabe K, Okada E, Kosaki K, Tsuji T, Ishii K, Nakamura M, Chiba K, Toyama Y, Matsumoto M. Watanabe K, et al. J Pediatr Orthop. 2011 Mar;31(2):186-93. doi: 10.1097/BPO.0b013e3182093da5. J Pediatr Orthop. 2011. PMID: 21307714
BACKGROUND: Shprintzen-Goldberg syndrome (SGS) is characterized by craniosynostosis and marfanoid habitus. ...CONCLUSIONS: Surgical treatment for scoliosis in patients with SGS was associated with a high incidence of perioperative and postoperative complicati …
BACKGROUND: Shprintzen-Goldberg syndrome (SGS) is characterized by craniosynostosis and marfanoid habitus. ...CONCLUSIO …
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
Poninska JK, Bilinska ZT, Franaszczyk M, Michalak E, Rydzanicz M, Szpakowski E, Pollak A, Milanowska B, Truszkowska G, Chmielewski P, Sioma A, Janaszek-Sitkowska H, Klisiewicz A, Michalowska I, Makowiecka-Ciesla M, Kolsut P, Stawinski P, Foss-Nieradko B, Szperl M, Grzybowski J, Hoffman P, Januszewicz A, Kusmierczyk M, Ploski R. Poninska JK, et al. J Transl Med. 2016 May 4;14(1):115. doi: 10.1186/s12967-016-0870-4. J Transl Med. 2016. PMID: 27146836 Free PMC article.
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C. Stheneur C, et al. Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871. Hum Mutat. 2008. PMID: 18781618 Free article.
TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection. ...Furthermore, a TGFBR1 gene mutation was found in a Shprintzen-Goldberg s …
TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated fa …