Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome

Steel Dora; Salpietro Vincenzo; Phadke Rahul; Pitt Matthew; Gentile Giulia; Massoud Ahmed; Batten Leigh; Bashamboo; Mcelreavey Ken; Saggar Anand; Kinali Maria

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Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome

机译：整个外显子组测序揭示了与轻度发育迟缓相关且无“毛肘”的MLL从头突变：扩大了Wiedemann-Steiner综合征的表型

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来源
《Journal of genetics》 |2015年第4期|共4页
作者
Steel Dora; Salpietro Vincenzo; Phadke Rahul; Pitt Matthew; Gentile Giulia; Massoud Ahmed; Batten Leigh; Bashamboo; Mcelreavey Ken; Saggar Anand; Kinali Maria;
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正文语种 eng
中图分类遗传学;
关键词
Wiedemann-Steiner syndrome; whole exome sequencing; hairy elbows; hypertrichosis cubiti; MLL gene; KMT2A; developmental delay; children;

机译：Wiedemann-Steiner综合征;全外显子组测序;多毛的肘部;肘部高毛症;MLL基因;KMT2A;发育迟缓;儿童;

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1. Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome [J] . Steel Dora, Salpietro Vincenzo, Phadke Rahul, Journal of genetics . 2015,第4期

机译：整个外显子组测序揭示了与轻度发育迟缓相关且无“毛肘”的MLL从头突变：扩大了Wiedemann-Steiner综合征的表型
2. Whole exome sequencing reveals a e?‘€e???e??? de novo mutation associated with mild developmental delay and without `hairy elbowsa€?: expanding the phenotype of Wiedemanna€“Steiner syndrome [J] . Ahmed Massoud, Anand Saggar5 1, Anu Bashamboo10, Journal of genetics . 2015,第4期

机译：整个外显子组测序显示一个e？’€e ??? e ???从头突变，伴有轻度发育迟缓且无“多毛肘”：扩大维特曼纳氏病的表型
3. Unexpected exome sequencing result: De novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity [J] . CasciI., AccoustiW., LacassieY. American journal of medical genetics, Part A . 2014,第5期

机译：意外的外显子组测序结果：婴儿脊柱侧弯，轻度发育迟缓和血缘病史的婴儿发生了新的TRPS1突变
4. The Utility of Whole Exome Sequencing in Patients with Intellectual Disability and Developmental Delay as a First-Tier Diagnostic Testing Strategy [D] . ?Richardson, Ellen 2020

机译：全基因组测序的患者效用智障和发展迟缓的一线诊断测试策略
5. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing [O] . Samuel P Strom, Reymundo Lozano, Hane Lee, 2014

机译：KMT2A（MLL）基因中的De Novo变体在临床外显子组测序确定的两个无关个体中引起非典型Wiedemann-Steiner综合征
6. Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann-Steiner syndrome [O] . Steel D, Salpietro V, Phadke R, 2015

机译：全外显子组测序显示mLL从头突变与轻度发育迟缓相关，没有“毛肘”：扩大Wiedemann-steiner综合征的表型

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome

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