作者：
Magdalena,Socha [1]
;
Anna,Sowińska-Seidler [1]
;
Uirá Souto,Melo [2]
;
Bjørt K,Kragesteen [3]
;
Martin,Franke [4]
;
Verena,Heinrich [5]
;
Robert,Schöpflin [6]
;
Inga,Nagel [7]
;
Nicolas,Gruchy [8]
;
Stefan,Mundlos [9]
;
Varun K A,Sreenivasan [10]
;
Cristina,López [11]
;
Martin,Vingron [5]
;
Ewelina,Bukowska-Olech [1]
;
Malte,Spielmann [12]
;
Aleksander,Jamsheer [13]
作者单位：
Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-806, Poland.
[1]
Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany.
[2]
Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin 14195, Germany; Department of Immunology, Weizmann Institute of Science, Rehovot 76100, Israel.
[3]
Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin 14195, Germany; Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas/Universidad Pablo de Olavide, Seville 41013, Spain.
[4]
Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.
[5]
Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.
[6]
Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel 24105, Germany.
[7]
Department of Genetics, EA7450 BioTARGen, Normandie Université, UNICAEN, CHU de Caen Normandie, Caen 14000, France.
[8]
Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, Berlin 13353, Germany.
[9]
Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Lübeck and University of Lübeck, Lübeck 23562, Germany.
[10]
Institut d'Investigacions Biomèdiques August Pi i Sunyer, Ciber de Cáncer, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer, Madrid, Spain.
[11]
Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel 24105, Germany; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Lübeck and University of Lübeck, Lübeck 23562, Germany; Human Molecular Genomics Group, Max Planck Institute for Molecular Genetics, Berlin 14195, Germany. Electronic address: malte.spielmann@uksh.de.
[12]
Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-806, Poland; Centers for Medical Genetics GENESIS, Poznan 60-529, Poland. Electronic address: jamsheer@wp.pl.
[13]
主题词
青少年(Adolescent);等位基因(Alleles);动物(Animals);儿童, 学龄前(Child, Preschool);染色质(Chromatin);染色体重复(Chromosome Duplication);染色体, 人, 10对(Chromosomes, Human, Pair 10);DNA拷贝数变异(DNA Copy Number Variations);增强子元件, 遗传学(Enhancer Elements, Genetic);家庭(Family);女(雌)性(Female);股骨(Femur);成纤维细胞生长因子8(Fibroblast Growth Factor 8);杂合子(Heterozygote);人类(Humans);婴儿(Infant);下肢畸形, 先天性(Lower Extremity Deformities, Congenital);男(雄)性(Male);小鼠(Mice);小鼠, 转基因(Mice, Transgenic);系谱(Pedigree);表型(Phenotype)
DOI
10.1016/j.ajhg.2021.08.001
PMID
34433009
发布时间
2022-03-04
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