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Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.

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第一作者: Nadra,Samra
第一单位: Department of Genetics, Ziv Medical Center, Safed, Israel.;Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.
作者单位: Department of Genetics, Ziv Medical Center, Safed, Israel.;Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel. [1] Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, The Netherlands. [2] Department of Genetics, Ziv Medical Center, Safed, Israel. [3] The Clinical Research Institute, Rambam Health Care Campus, Haifa, Israel. [4] The Genetics Institute, Rambam Health Care Campus, Haifa, Israel. [5] Andalusian Centre for Molecular Biology and Regenerative Medicine-CABIMER, CSIC-Universidad Pablo de Olavide, Sevilla, Spain. [6] Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.;Pediatric Intensive Care Unit, Ziv Medical Center, Safed, Israel. [7] Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.;Department of Neonatology, Ziv Medical Center, Safed, Israel. [8] Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.;Department of Pediatric Hematology, Ziv Medical Center, Safed, Israel. [9] Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, Haifa, Israel. [10] Department of Radiology, Rambam Health Care Campus, Haifa, Israel. [11] Department of Pathology, Meir Medical Center, Kfar Saba, Israel. [12] Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands. [13] Metabolic unit, Ziv Medical Center, Safed, Israel. [14] Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, The Netherlands k_weiss@rmc.gov.il a.c.o.vertegaal@lumc.nl. [15] The Genetics Institute, Rambam Health Care Campus, Haifa, Israel k_weiss@rmc.gov.il a.c.o.vertegaal@lumc.nl.;The Ruth and Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel. [16]
DOI 10.1136/jmg-2023-109267
PMID 37460201
发布时间 2026-06-03
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Journal of medical genetics

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