Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome
Alberto S. Cornier1,2, Karen Staehling-Hampton3, Kym M. Delventhal3, Yumiko Saga4, Jean-Francois Caubet5, Nobuo Sasaki4, Sian Ellard6, Elizabeth Young6, Norman Ramirez7, Simon E. Carlo1,8, Jose Torres2, John B. Emans5, Peter D. Turnpenny9, Olivier Pourquié10
1Department of Molecular Medicine, la Concepción Hospital, San German, PR 00683, USA
2Department of Biochemistry, Ponce School of Medicine, Ponce, PR 00732, USA
3Molecular Biology Facility, Stowers Institute for Medical Research, Kansas City, MO 64110, USA
4Division of Mammalian Development, National Institute of Genetics, Mishima 411-8540, Japan
5Department of Orthopaedic Surgery, Children's Hospital Boston, Boston, MA 02115, USA
6Department of Molecular Genetics, Royal Devon and Exeter Hospital, Exeter EX2 5DW, UK
7Department of Orthopaedics, la Concepción Hospital, San German, PR 00683, USA
8Department of Genetics, San Juan Bautista School of Medicine, Caguas, PR 00726, USA
9Clinical Genetics Department, Royal Devon and Exeter Hospital, Exeter EX1 2ED, UK
10Howard Hughes Medical Institute and Stowers Institute for Medical Research, Kansas City, MO 64110, USA
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The American Journal of Human Genetics
Tập 82
1334-1341
Thông tin tác giả