Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
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A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotypeWhole exome sequencing to identify genetic causes of short statureGenetic evaluation of short stature.Central precocious puberty caused by mutations in the imprinted gene MKRN3.Copy number variants in short children born small for gestational age.Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M SyndromeIdiopathic short stature due to novel heterozygous mutation of the aggrecan geneWhole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.Towards identification of molecular mechanisms of short stature.Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.Identification of HLA-DQA1 as a Susceptibility Gene for Spinal Tuberculosis by Exome Sequencing.Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.A novel mutation in a Japanese patient with 3M syndrome
P2860
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P2860
Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Whole exome sequencing reveals ...... n undiagnosed growth disorder.
@ast
Whole exome sequencing reveals ...... n undiagnosed growth disorder.
@en
type
label
Whole exome sequencing reveals ...... n undiagnosed growth disorder.
@ast
Whole exome sequencing reveals ...... n undiagnosed growth disorder.
@en
prefLabel
Whole exome sequencing reveals ...... n undiagnosed growth disorder.
@ast
Whole exome sequencing reveals ...... n undiagnosed growth disorder.
@en
P2093
P2860
P1476
Whole exome sequencing reveals ...... n undiagnosed growth disorder.
@en
P2093
Andrew Dauber
Eliana Hechter
Jason Safer
Joan Stoler
Joel N Hirschhorn
P2860
P304
P356
10.1016/J.JPEDS.2012.07.055
P407
P577
2012-09-10T00:00:00Z