期刊
JOURNAL OF PEDIATRIC GENETICS
卷 4, 期 1, 页码 23-28出版社
GEORG THIEME VERLAG KG
DOI: 10.1055/s-0035-1554977
关键词
partial chromosome 1p31.1 deletion; microarray; NEGR1 gene; visual performance; siblings; obesity; neuropsychiatry
类别
资金
- National Institute of Child Health and Human Development [HD02528]
We present two siblings with a partial deletion of chromosome 1p31.1 involving only the neuronal growth regulator 1 (NEGR1) gene. The siblings had a history of neuropsychiatric and behavioral problems, learning difficulties, hypotonia, mild aortic root dilatation, hypermobility, and scoliosis. This is the first clinical report of a microdeletion of chromosome 1p31.1 involving only the NEGR1 gene.
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