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Intellectual disability syndrome associated with a homozygous founder variant in <i>SGSM3</i> in Ashkenazi Jews.

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第一作者: Rivka,Birnbaum
第一单位: Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.
作者单位: Department of Genetics, Hadassah Medical Center, Jerusalem, Israel. [1] Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. [2] Genetics Institute, Shamir Medical Center, Tzrifin, Israel. [3] Genetics Institute, Shamir Medical Center, Tzrifin, Israel.;Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. [4] Institute of Human Genetics, Western Galilee Hospital-Nahariya, Nahariya, Israel. [5] Department of Child Development, Galilee Medical Center, Nahariya, Israel. [6] The Center for Child Development and Pediatric Neurology, Western Galilee Hospital-Naharyia, Nahariya, Israel. [7] Genetics, Shaare-Zedek, Jerusalem, Israel. [8] Genetics, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.;Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. [9] Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA. [10] Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA. [11] GeneDx, Gaithersburg, Maryland, USA. [12] The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel. [13] Research, Dor Yeshroim, Brooklyn, New York, USA.;Dor Yeshorim, New York, New York, USA. [14] Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.;Department of Genetics, Hadassah Medical Center, Jerusalem, Jerusalem, Israel. [15] Department of Genetics, Hadassah Medical Center, Jerusalem, Israel hagarmor@hadassah.org.il.;Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. [16]
DOI 10.1136/jmg-2023-109504
PMID 37833060
发布时间 2025-07-17
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Journal of medical genetics

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