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De novo loss‐of‐function variants in STAG2 are associated with developmental delay,microcephaly, and congenital anomalies
Authors:Sureni V Mullegama  Steven D Klein  Milene V Mulatinho  Tharanga Niroshini Senaratne  Kathryn Singh  UCLA Clinical Genomics Center  Dzung C Nguyen  Natalie M Gallant  Samuel P Strom  Shahnaz Ghahremani  Nagesh P Rao  Julian A Martinez‐Agosto
Institution:1. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, California;2. UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, California;3. Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California;4. Division of Genetic and Genomic Medicine, University of California, Irvine, California;5. Miller Children's and Women's Hospital Long Beach, Long Beach, California;6. Department of Radiology, David Geffen School of Medicine at UCLA, Los Angeles, California;7. Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California
Abstract:
Keywords:cohesinopathy  cohesin‐associated genes  cohesin complex  gene dosage  STAG2  X‐linked
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