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pro vyhledávání: '"Bonnie Braddock"'
Autor:
Cathy D. Vocke, Leah R. Fleming, Anna M. Piskorski, Ali Amin, Chanika Phornphutkul, Suzanne de la Monte, Thierry Vilboux, Folami Duncan, Joan Pellegrino, Bonnie Braddock, Lindsay A. Middelton, Laura S. Schmidt, Maria J. Merino, Edward W. Cowen, Wendy J. Introne, W. Marston Linehan, Ann C. M. Smith
Publikováno v:
Am J Med Genet A
We report a series of four unrelated adults with Smith-Magenis syndrome (SMS) and concomitant features of Birt-Hogg-Dubé (BHD) syndrome based upon haploinsufficiency for FLCN and characteristic renal cell carcinomas and/or evidence of cutaneous fibr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21d0a647de25a4ef258be2894749b511
https://europepmc.org/articles/PMC10117402/
https://europepmc.org/articles/PMC10117402/
