Roberts syndrome: facial dysmorphology in a mildly affected case

被引：1

作者：

Ahmed, Ayesha Ali ^{[1
]}

Imrie, Stuart ^{[2
]}

Duncanc, Rod ^{[3
]}

Tolmie, John ^{[1
]}

机构：

[1] Royal Hosp Sick Children, Ferguson Smith Ctr Clin Genet, Glasgow G3 8SJ, Lanark, Scotland

[2] Royal Hosp Sick Children, Duncan Guthrie Inst Med Genet, Glasgow G3 8SJ, Lanark, Scotland

[3] Royal Hosp Sick Children, Dept Orthopaed, Glasgow G3 8SJ, Lanark, Scotland

来源：

CLINICAL DYSMORPHOLOGY | 2009年 / 18卷 / 04期

关键词：

FORM;

D O I：

10.1097/MCD.0b013e328330209b

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：236 / 237

页数：2

共 5 条

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[3] INCIDENTAL DETECTION OF PREMATURE CENTROMERE SEPARATION IN AMNIOCYTES ASSOCIATED WITH A MILD FORM OF ROBERTS SYNDROME [J].

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[4]

Temtamy SA, 2006, GENET COUNSEL, V17, P1

[5] Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion [J].

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NATURE GENETICS, 2005, 37 (05) :468-470

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