A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.

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第一作者： David Humberto,Marmolejo Castañeda

第一单位： Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain.

作者： David Humberto,Marmolejo Castañeda ^[1] ; Mara,Cruellas Lapeña ^[1] ; Estela,Carrasco López ^[2] ; Gloria,Aparicio Español ^[2] ; Claudia,Valverde Morales ^[3] ; Adrià,López-Fernández ^[1] ; Eduard,Pérez Ballesteros ^[2] ; Sara,Torres-Esquius ^[2] ; Mónica,Pardo Muñoz ^[2] ; Judith,Balmaña Gelpi ^[2]

作者单位： Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain. ^[1] Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain. ^[2] Dermatology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain. ^[3] Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain. jbalmana@vhio.net. ^[4] Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain. jbalmana@vhio.net. ^[5]

关键词 Bloom syndrome Genetics Genodermatosis Hereditary cancer Rothmund-Thomson syndrome

主题词男(雄)性(Male);人类(Humans);中年人(Middle Aged);Rothmund-Thomson综合征(Rothmund-Thomson Syndrome);RecQ解旋酶类(RecQ Helicases);Bloom综合征(Bloom Syndrome)

DOI 10.1007/s10689-022-00303-2

PMID 35781852

发布时间 2023-02-15

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