Literature DB >> 11836366

Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome.

J G Dauwerse, K Bouman, A J van Essen, A H van Der Hout, G Kolsters, M H Breuning, D J M Peters.   

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Year:  2002        PMID： 11836366      PMCID： PMC1735030          DOI： 10.1136/jmg.39.2.136

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

1.  Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo.

Authors:  Jharendra P Rijal; Prajwal Dhakal; Smith Giri; Khagendra V Dahal
Journal:  BMJ Case Rep       Date:  2014-12-17

Review 2.  Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans.

Authors:  Stephen C Juvet; Francis X McCormack; David J Kwiatkowski; Gregory P Downey
Journal:  Am J Respir Cell Mol Biol       Date:  2006-11-10       Impact factor: 6.914

3.  Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

Authors:  Mark B Consugar; Wai C Wong; Patrick A Lundquist; Sandro Rossetti; Vickie J Kubly; Denise L Walker; Laureano J Rangel; Richard Aspinwall; W Patrick Niaudet; Seza Ozen; Albert David; Milen Velinov; Eric J Bergstralh; Kyongtae T Bae; Arlene B Chapman; Lisa M Guay-Woodford; Jared J Grantham; Vicente E Torres; Julian R Sampson; Brian D Dawson; Peter C Harris
Journal:  Kidney Int       Date:  2008-09-24       Impact factor: 10.612

4.  Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report.

Authors:  Kenji Gonda; Takanori Akama; Takayuki Nakamura; Eiko Hashimoto; Naomi Kyoya; Yuichi Rokkaku; Yuko Maejima; Shoichiro Horita; Kazunoshin Tachibana; Noriko Abe; Tohru Ohtake; Kenju Shimomura; Koji Kono; Shigehira Saji; Seiichi Takenoshita; Eiji Higashihara
Journal:  J Med Case Rep       Date:  2019-12-24
  4 in total

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