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

Grimsdottir Sigrun; Hove Hanne B.; Kreiborg Sven; Ek Jakob; Johansen Anders; Darvann Tron A.; Hermann Nuno V.

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

机译：ZBTB20中的新型ZBTB20突变，患有短地下患者的男孩

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来源
《Clinical dysmorphology》 |2019年第1期|共5页
作者
Grimsdottir Sigrun; Hove Hanne B.; Kreiborg Sven; Ek Jakob; Johansen Anders; Darvann Tron A.; Hermann Nuno V.;
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作者单位

Univ Copenhagen Sch Dent 3D Craniofacial Image Res Lab Copenhagen Denmark;

Copenhagen Univ Hosp Rigshosp Dept Pediat Div Rare Dis Copenhagen Denmark;

Univ Copenhagen Sch Dent 3D Craniofacial Image Res Lab Copenhagen Denmark;

Copenhagen Univ Hosp Rigshosp Dept Clin Genet Copenhagen Denmark;

Copenhagen Univ Hosp Rigshosp Dept Growth &

Reprod Copenhagen Denmark;

Univ Copenhagen Sch Dent 3D Craniofacial Image Res Lab Copenhagen Denmark;

Univ Copenhagen Sch Dent 3D Craniofacial Image Res Lab Copenhagen Denmark;

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正文语种 eng
中图分类妇产科学;
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专利

1. Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature [J] . Grimsdottir Sigrun, Hove Hanne B., Kreiborg Sven, Clinical dysmorphology . 2019,第1期

机译：ZBTB20中的新型ZBTB20突变，患有短地下患者的男孩
2. Novel De Novo Mutations in ZBTB20 in Primrose Syndrome with Congenital Hypothyroidism [J] . Mattioli Francesca, Piton Amelie, Gerard Benedicte, American journal of medical genetics, Part A . 2016,第6期

机译：在先天性甲状腺功能减退症的月见草综合征中ZBTB20的新型从头突变。
3. Clinical and functional characterization of two novel ZBTB20 ZBTB20 mutations causing Primrose syndrome [J] . Stellacci Emilia, Steindl Katharina, Joset Pascal, Human mutation . 2018,第7期

机译：两种新型ZBTB20 ZBTB20突变临床和功能性表征，导致报春花综合征
4. Computer Modelling the Effects of Chloroquine on KCNJ2 D172N and E299V Mutations-Linked Short QT Syndrome [C] . Cunjin Luo, Ying He, Kuanquan Wang, Computing in Cardiology . 2020

机译：计算机建模氯喹对KCNJ2D172N和E299V突变的影响 - 链接短QT综合征
5. MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome [D] . Kato Kohji, 加藤耕治 2019

机译：患有新型巨脑综合征的患者的MYCN de novo功能获得性突变
6. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature [O] . Yongguo Yu, RuEn Yao, Lili Wang, 2015

机译：与综合征和非综合征性矮小身材相关的ARID1B的从头突变
7. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature [O] . Yongguo Yu, RuEn Yao, Lili Wang, 2015

机译：与综合征和非综合征性矮小身材相关的ARID1B的从头突变

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

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