Biallelic TTI1 pathogenic variants cause a microcephalic neurodevelopmental disorder

被引：0

作者：

Serey-Gaut, Margaux ^{[1
]}

Essien-Umanah, George K. ^{[2
,3
,4
]}

Makrythanasis, Periklis ^{[5
,6
]}

Suri, Mohnish ^{[7
]}

Taylor, Alexander M. ^{[8
]}

Sullivan, Jennifer ^{[9
]}

Shashi, Vandana ^{[9
]}

Song, Xiaofeng ^{[10
]}

Rosenfeld, Jill A. ^{[10
,11
]}

Cabrol, Christelle ^{[1
]}

Pehlivan, Davut ^{[10
]}

Akdemir, Zeynep Coban ^{[10
]}

Geckinli, Bilgen B. ^{[12
]}

Eason, Jacqueline ^{[7
]}

Sachdev, Rani ^{[13
]}

Evans, Carey-Anne ^{[14
]}

Buckley, Michael ^{[15
]}

Nixon, Cheng Yee ^{[14
]}

Piard, Juliette ^{[1
,16
]}

Roscioli, Toni ^{[13
,14
]}

Lupski, James R. ^{[10
,17
,18
]}

Antonarakis, Stylianos E. ^{[5
,6
,19
]}

Dawson, Valina ^{[2
,3
,4
]}

Dawson, Ted ^{[2
,3
,4
]}

Van Maldergem, Lionel ^{[1
,16
,20
]}

机构：

[1] Univ Franche Comte, Ctr Genet Humaine, Besancon, France

[2] Johns Hopkins Univ, Sch Med, Inst Cell Engn, Neuroregenerat Program, Baltimore, MD USA

[3] Johns Hopkins Univ, Sch Med, Inst Cell Engn, Stem Cell Program, Baltimore, MD USA

[4] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA

[5] Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland

[6] Univ Geneva, Med Fac, Dept Genet Med & Dev, Geneva, Switzerland

[7] Nottingham Univ Hosp, Clin Genet Serv, Nottingham, England

[8] Univ Birmingham, Inst Canc & Genom Sci, Birmingham, W Midlands, England

[9] Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

[10] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[11] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[12] Marmara Univ, Sch Med, Dept Med Genet, Istanbul, Turkey

[13] Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia

[14] Neurosci Res Australia NeuRA Inst, Sydney, NSW, Australia

[15] Prince Wales Hosp, New South Wales Hlth Pathol, Randwick, NSW, Australia

[16] Natl Inst Hlth & Med Res INSERM, Clin Invest Ctr 1431, Besancon, France

[17] Baylor Coll Med, Dept Pediat Genet, San Antonio, TX USA

[18] Texas Childrens Hosp, Houston, TX 77030 USA

[19] Swiss Inst Genom Med, Medigenome, Geneva, Switzerland

[20] Univ Franche Comte, Integrat & Cognit Neurosci Res Unit EA481, Besancon, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

C16.2

引用

页码：62 / 62

页数：1

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