センセンブレナー症候群
WordNet
- abnormal development (of organs or cells) or an abnormal structure resulting from such growth
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English Journal
- Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
- Halbritter J1, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.
- American journal of human genetics.Am J Hum Genet.2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.
- Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic
- PMID 24140113
- Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
- Hoffer JL, Fryssira H, Konstantinidou AE, Ropers HH, Tzschach A.
- Clinical genetics.Clin Genet.2013 Jan;83(1):92-5. doi: 10.1111/j.1399-0004.2012.01880.x. Epub 2012 Apr 9.
- PMID 22486404
- Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death.
- Tamai S, Tojo M, Kamimaki T, Sato Y, Nishimura G.
- American journal of medical genetics.Am J Med Genet.2002 Jan 1;107(1):78-80.
- PMID 11807876
Japanese Journal
- Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia
- Obikane Katsuyuki,Nakashima Taiji,Watarai Yoshihiko,Morita Ken,Cho Kazutoshi,Tonoki Hidefumi,Nagata Michio,Sasaki Satoshi
- Pediatric Nephrology 21(4), 574-576, 2006-04
- … Cranioectodermal dysplasia (CED) is a rare autosomal recessive disease with characteristic craniofacial, skeletal, and ectodermal-derived tissue abnormalities. …
- NAID 120000960080
★リンクテーブル★
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- 英
- cranioectodermal dysplasia, cranio-ectodermal dysplasia
- 同
- 頭蓋外胚葉性異形成症
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- 英
- Sensenbrenner syndrome
- 同
- cranioectodermal dysplasia 1 CED1, Levin syndrome
- 関
- 頭蓋外胚葉性異形成症 cranioectodermal dysplasia cranio-ectodermal dysplasia
参考
- CRANIOECTODERMAL DYSPLASIA 1; CED1 - OMIM
- http://omim.org/218330
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頭蓋外胚葉異形成症