Mosaic Deletion of the NF1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1

被引：6

作者：

Tavares, Ana Lisa Taylor ^{[1
]}

Willatt, Lionel ^{[2
]}

Armstrong, Ruth ^{[1
]}

Simonic, Ingrid ^{[2
]}

Park, Soo-Mi ^{[1
]}

机构：

[1] Addenbrookes Hosp, Dept Med Genet, Cambridge CB2 0QQ, England

[2] Addenbrookes Hosp, Lab Cytogenet, Cambridge CB2 0QQ, England

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161A卷 / 05期

关键词：

NEUROFIBROMATOSIS TYPE-1; CUTANEOUS NEUROFIBROMAS; GERMLINE; PHENOTYPE; MUTATIONS; MICRODELETIONS; RECOMBINATION; GENOTYPE; 17Q11.2; REGION;

D O I：

10.1002/ajmg.a.35853

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：1185 / 1188

页数：4

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