Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

Authors:	Yavuz Bayram Davut Pehlivan Ender Karaca Tomasz Gambin Shalini N. Jhangiani Serkan Erdin Claudia Gonzaga‐Jauregui Wojciech Wiszniewski Donna Muzny Baylor‐Hopkins Center for Mendelian Genomics Nursel H. Elcioglu M. Selman Yildirim Banu Bozkurt Ayse Gul Zamani Eric Boerwinkle Richard A. Gibbs James R. Lupski

Affiliation:	1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;2. Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas;3. Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts;4. Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul, Turkey;5. Department of Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey;6. Department of Ophthalmology, Selcuk University Medical Faculty, Konya, Turkey;7. Human Genetics Center, University of Texas Health Science Center at Houston, Houston, Texas;8. Department of Pediatrics, Baylor College of Medicine, Houston, Texas;9. Texas Children's Hospital, Houston, Texas

Abstract:

Keywords:	GAPO syndrome ANTXR1 whole exome sequencing