首页> American journal of medical genetics. Part A> Double Mosaicism in Xia-Gibbs Syndrome.

Double Mosaicism in Xia-Gibbs Syndrome.

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第一作者： Jianhong,Hu

第一单位： Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

作者： Jianhong,Hu ^[1] ; Moez,Dawood ^[2] ; Heer Hemant,Mehta ^[3] ; Divya,Pasham ^[3] ; Manveer,Kaur ^[3] ; Divya,Kalra ^[3] ; Kimberly,Walker ^[3] ; Marie-Claude,Gingras ^[3] ; James R,Lupski ^[4] ; Aniko,Sabo ^[1] ; Davut,Pehlivan ^[5] ; Richard A,Gibbs ^[1]

作者单位： Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. ^[1] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA. ^[2] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA. ^[3] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.;Texas Children's Hospital, Houston, Texas, USA. ^[4] Texas Children's Hospital, Houston, Texas, USA.;Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.;Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas, USA. ^[5]

关键词 haplotype analysis mosaicism neurodevelopmental disorder rare disease

DOI 10.1002/ajmg.a.70086

PMID 41738116

发布时间 2026-02-25

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