Further clinical delineation of microcephaly-capillary malformation syndrome.

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第一作者： Julianne K,Postma

第一单位： Department of Medical Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

作者： Julianne K,Postma ^[1] ; Jessica L,Zambonin ^[2] ; Ebtissal,Khouj ^[3] ; Suad,Alyamani ^[4] ; John M,Graham ^[5] ; Fowzan S,Alkuraya ^[3] ; Stephen,Kundell ^[6] ; Melissa T,Carter ^[1]

作者单位： Department of Medical Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada. ^[1] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada. ^[2] Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[3] Neuroscience Centre, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[4] Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA. ^[5] Thousand Oaks Pediatrics, California, USA. ^[6]

关键词 MIC-CAP STAMBP clinical spectrum microcephaly-capillary malformation syndrome recurrent variants

主题词毛细血管(Capillaries);人类(Humans);小头畸形(Microcephaly);神经系统畸形(Nervous System Malformations);血管畸形(Vascular Malformations)

DOI 10.1002/ajmg.a.62936

PMID 35962715

发布时间 2023-01-30

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准确一般字义偏差语意偏离译文作用小提交