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A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers.
Begemann, Anaïs; Oneda, Beatrice; Baumer, Alessandra; Guldimann, Marina; Tutschek, Boris; Rauch, Anita.
  • Begemann A; University of Zurich, Institute of Medical Genetics, Schlieren, Zurich, Switzerland.
  • Oneda B; University of Zurich, Institute of Medical Genetics, Schlieren, Zurich, Switzerland.
  • Baumer A; University of Zurich, Institute of Medical Genetics, Schlieren, Zurich, Switzerland.
  • Guldimann M; University of Zurich, Institute of Medical Genetics, Schlieren, Zurich, Switzerland.
  • Tutschek B; Prenatal Zürich, Zurich, Switzerland; Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
  • Rauch A; University of Zurich, Institute of Medical Genetics, Schlieren, Zurich, Switzerland; University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland. Electronic address: anita.rauch@medgen.uzh.ch.
Eur J Med Genet ; 65(12): 104628, 2022 Dec.
Article en En | MEDLINE | ID: mdl-36182037
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Genéticas Ligadas al Cromosoma X / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Genéticas Ligadas al Cromosoma X / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article