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abnormal development (of organs or cells) or an abnormal structure resulting from such growth

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1. 先天性股関節脱臼：治療および転帰 developmental dysplasia of the hip treatment and outcome
2. 線維筋異形成症の臨床症状および診断 clinical manifestations and diagnosis of fibromuscular dysplasia
3. 腎動脈の線維筋異形成症の治療 treatment of fibromuscular dysplasia of the renal arteries
4. バレット食道のマネージメント management of barretts esophagus
5. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias

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.

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