Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.
作者信息
Barea Jaime J, van Meel Eline, Kornfeld Stuart, Bird Lynne M
机构信息
Department of Pediatrics, University of California, San Diego, California.
Division of Dysmorphology/Genetics, Rady Children's Specialists of San Diego, San Diego, California.
出版信息
Am J Med Genet A. 2015 Nov;167A(11):2844-6. doi: 10.1002/ajmg.a.37213. Epub 2015 Jun 24.
Abstract
摘要
相似文献
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Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.由微缺失揭示隐性突变引起的结节性硬化症、多囊肾病和黏脂贮积症III型γ。
Am J Med Genet A. 2015 Nov;167A(11):2844-6. doi: 10.1002/ajmg.a.37213. Epub 2015 Jun 24.
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Deletions that reveal recessive genes.揭示隐性基因的缺失。
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