A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenotype.

Autor: Papingi, Dzhoy, Bierhals, Tatjana, Volk, Alexander E., Kutsche, Michael, Paul, Kevin, Herget, Theresia

Publikováno v: American Journal of Medical Genetics. Part A; May2024, Vol. 194 Issue 5, p1-6, 6p

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Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia.

Autor: Wagner JN; Department of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Al-Bazaz M; Department of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Forstreuter A; Department of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Hammada MI; Department of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Hille J; Department of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Papingi D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Bokemeyer C; Department of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Fiedler W; Department of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.

Publikováno v: Biomedicines [Biomedicines] 2023 Dec 27; Vol. 12 (1). Date of Electronic Publication: 2023 Dec 27.