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Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia
Authors:Elif Uz  Yasemin Alanay  Dilek Aktas  Ibrahim Vargel  Safak Gucer  Ferdinand von Eggeling  Ozgur Deren  Hilal Ozdag  Sevim Balci  Bernd Wollnik  Nurten A. Akarsu
Affiliation:1 Gene Mapping Laboratory, Department of Medical Genetics, Hacettepe University Medical Faculty, Sihhiye 06100, Ankara, Turkey
2 Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Sihhiye 06100, Ankara, Turkey
3 Department of Plastic and Reconstructive Surgery, K?r?kkale University Medical Faculty, 71001, Kirikkale, Turkey
4 Department of Plastic and Reconstructive Surgery, Hacettepe University Medical Faculty, Sihhiye 06100, Ankara, Turkey
5 Pathology Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Sihhiye 06100, Ankara, Turkey
6 Jena University Hospital, Institute of Human Genetics and Anthropologie, D-07740 Jena, Germany
7 Department of Medical Biology, Hacettepe University Medical Faculty, Sihhiye 06100, Ankara, Turkey
8 Department of Obstetrics and Gynecology, Hacettepe University Medical Faculty, Sihhiye 06100, Ankara, Turkey
9 Biotechnology Institute of Ankara University, Besevler 06501, Ankara, Turkey
10 Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany
11 Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany
12 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany
Abstract:
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