AN N TERMINAL KAT6B MISSENSE VARIANT CAUSES A MILD ROBERTS SYNDROME PHENOTYPE, AND BRINGS INTO FOCUS PHENOTYPIC OVERLAPS ACROSS THE LYSINE ACETYL TRANSFERASE SYNDROMES

Armstrong L.; OByrne J. J.

首页> 外文期刊>American journal of medical genetics, Part A >AN N TERMINAL KAT6B MISSENSE VARIANT CAUSES A MILD ROBERTS SYNDROME PHENOTYPE, AND BRINGS INTO FOCUS PHENOTYPIC OVERLAPS ACROSS THE LYSINE ACETYL TRANSFERASE SYNDROMES

【24h】

AN N TERMINAL KAT6B MISSENSE VARIANT CAUSES A MILD ROBERTS SYNDROME PHENOTYPE, AND BRINGS INTO FOCUS PHENOTYPIC OVERLAPS ACROSS THE LYSINE ACETYL TRANSFERASE SYNDROMES

机译：N终端KAT6B密码变体导致轻度罗伯茨综合征表型，并在赖氨酸乙酰转移酶综合征综合体中重叠聚焦表型重叠

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

著录项
相似文献
相关主题

著录项

来源
《American journal of medical genetics, Part A》 |2018年第6期|共1页
作者
Armstrong L.; OByrne J. J.;
展开▼
作者单位

Univ British Columbia Dept Med Genet Vancouver BC Canada;

Univ British Columbia Dept Med Genet Vancouver BC Canada;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词

相似文献

外文文献
专利

1. AN N TERMINAL KAT6B MISSENSE VARIANT CAUSES A MILD ROBERTS SYNDROME PHENOTYPE, AND BRINGS INTO FOCUS PHENOTYPIC OVERLAPS ACROSS THE LYSINE ACETYL TRANSFERASE SYNDROMES [J] . Armstrong L., OByrne J. J. American journal of medical genetics, Part A . 2018,第6期

机译：N终端KAT6B密码变体导致轻度罗伯茨综合征表型，并在赖氨酸乙酰转移酶综合征综合体中重叠聚焦表型重叠
2. A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome [J] . Yo Niida, Yusuke Mitani, Mondo Kuroda, Congenital anomalies . 2017,第3期

机译：A OHDO综合征的Sy-Barber-Biescrecter-Younhds-ysmpson变体，具有KAT6B 10-碱基对回文复制：一种经常性突变，导致与终氮综合征混合的严重表型
3. Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations [J] . Elisa Adele Colombo, Lidia Larizza, Hatice Mutlu-Albayrak, Frontiers in Pediatrics . 2019,第a期

机译：罗伯茨和球员 - Gerold综合征在两名颅骨，肢体减少和Esco2突变患者中的表型重叠
4. The E1784K mutation in SCN5A and phenotypic overlap of Type 3 Long QT syndrome and Brugada syndrome: A simulation study [C] . Wang K.Q., Yuan Y.F., Kharche S., Computers in Cardiology, 2009 . 2009

机译：模拟研究3型长QT综合征和Brugada综合征的SCN5A中的E1784K突变和表型重叠
5. Investigation of Molecular Mechanisms Causing Peters Plus Syndrome and Congenital Disorders with Overlapping Phenotypes [D] . Zhang, Ao. 2021

机译：对Peters Plus综合征和先天性障碍的分子机制调查重叠表型
6. Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis Limb Reductions and ESCO2 Mutations [O] . Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, 2019

机译：罗伯茨和Baller-Gerold综合征表型重叠在两名颅前突肢体减少和ESCO2突变的患者中
7. The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. [O] . Huson, S M, Rodgers, C S, Hall, C M, 1990

机译：Baller-Gerold综合征：表型和细胞遗传学与Roberts综合征重叠。

AN N TERMINAL KAT6B MISSENSE VARIANT CAUSES A MILD ROBERTS SYNDROME PHENOTYPE, AND BRINGS INTO FOCUS PHENOTYPIC OVERLAPS ACROSS THE LYSINE ACETYL TRANSFERASE SYNDROMES

著录项

相似文献

相关主题

期刊订阅