Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

被引：7

作者：

Grimsdottir, Sigrun ^{[1
,3
,9
]}

Hove, Hanne B. ^{[4
,8
]}

Kreiborg, Sven ^{[1
,2
,3
,9
]}

Ek, Jakob ^{[5
]}

Johansen, Anders ^{[6
]}

Darvann, Tron A. ^{[1
,3
,7
,9
]}

Hermann, Nuno V. ^{[1
,2
,3
,9
]}

机构：

[1] Univ Copenhagen, Sch Dent, 3D Craniofacial Image Res Lab, Copenhagen, Denmark

[2] Univ Copenhagen, Dept Pediat Dent & Clin Genet, Sch Dent, Fac Hlth Sci, Norre Alle 20, DK-2200 Copenhagen, Denmark

[3] Copenhagen Univ Hosp, Rigshosp, Ctr Head & Orthopaed, Copenhagen, Denmark

[4] Copenhagen Univ Hosp, Rigshosp, Dept Pediat, Div Rare Dis, Copenhagen, Denmark

[5] Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Copenhagen, Denmark

[6] Copenhagen Univ Hosp, Rigshosp, Dept Growth & Reprod, Copenhagen, Denmark

[7] Copenhagen Univ Hosp, Rigshosp, Dept Oral & Maxillofacial Surg, Copenhagen, Denmark

[8] Copenhagen Univ Hosp, Rigshosp, Div Rare Dis, Dept Pediat,RAREDIS Database, Copenhagen, Denmark

[9] Tech Univ Denmark, Dept Appl Math & Comp Sci, Kongens Lyngby, Denmark

来源：

CLINICAL DYSMORPHOLOGY | 2019年 / 28卷 / 01期

关键词：

ABNORMALITIES;

D O I：

10.1097/MCD.0000000000000244

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：41 / 45

页数：5

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