首页> American journal of medical genetics. Part A> Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.

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第一作者： Alon,Peled

第一单位： Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

作者： Alon,Peled ^[1] ; Ofer,Sarig ^[1] ; Janan,Mohamad ^[2] ; Marina,Eskin-Schwartz ^[3] ; Dan,Vodo ^[1] ; Ron,Bochner ^[1] ; Natalya,Malchin ^[1] ; Ofer,Isakov ^[4] ; Noam,Shomron ^[5] ; Gilad,Fainberg ^[6] ; Marta,Bertolini ^[7] ; Ralf,Paus ^[8] ; Eli,Sprecher ^[2]

作者单位： Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. ^[1] Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.;Department of Human Molecular Genetics and Biochemistry, Tel-Aviv University, Tel Aviv, Israel. ^[2] Faculty of Health Sciences, Ben Gurion University of the Negev, Be'er Sheva, Israel.;Soroka University Medical Center, Genetic Institute, Be'er Sheva, Israel. ^[3] Rabin Medical Center, Raphael Recanati Genetic Institute, Petach Tikva, Israel.;Clalit Research Institute, Clalit Health Services, Ramat Gan, Israel.;The Ivan and Francesca Berkowitz Family Living Laboratory Collaboration at Harvard Medical School and Clalit Research Institute, Boston, Massachusetts, USA. ^[4] Department of Human Molecular Genetics and Biochemistry, Tel-Aviv University, Tel Aviv, Israel. ^[5] Department of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. ^[6] Department of Dermatology, University of Münster, Münster, Germany.;Monasterium Laboratory, Nano-Bioanalytik Zentrum, Münster, Germany. ^[7] Monasterium Laboratory, Nano-Bioanalytik Zentrum, Münster, Germany.;Dr Phillip Frost Department of Dermatology & Cutaneous Surgery, University of Miami Miller School of Medicine, Florida, USA.;Centre for Dermatology Research, Institute of Inflammation and Repair, University of Manchester, Manchester, UK. ^[8]

关键词 ALX4 ectodermal dysplasia frameshift frontonasal dysplasia genodermatosis hypotrichosis