Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

被引：0

作者：

Harms, F. L. ^{[1
]}

Parthasarathy, P. ^{[2
]}

Zorndt, D. ^{[1
]}

Alawi, M. ^{[3
]}

Fuchs, S. ^{[1
]}

Halliday, B. J. ^{[2
]}

McKeown, C. ^{[4
]}

Sampaio, H. ^{[5
,6
]}

Radhakrishnan, N. ^{[7
]}

Radhakrishnan, S. K. ^{[8
]}

Sachdev, R. ^{[4
]}

Robertson, S. P. ^{[2
]}

Nampoothiri, S. ^{[9
]}

Kutsche, K. ^{[1
]}

机构：

[1] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany

[2] Univ Otago, Dept Womens & Childrens Hlth, Dunedin Sch Med, Dunedin, New Zealand

[3] Univ Med Ctr Hamburg Eppendorf, Bioinformat Core, Hamburg, Germany

[4] Sydney Childrens Hosp, Ctr Clin Genet, Randwick, NSW, Australia

[5] Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW, Australia

[6] Sydney Childrens Hosp, Randwick, NSW, Australia

[7] Amrita Inst Med Sci & Res Ctr, Dept Ophthalmol, Cochin, Kerala, India

[8] Amrita Inst Med Sci & Res Ctr, Dept Neurol, Cochin, Kerala, India

[9] Amrita Inst Med Sci & Res Ctr, Dept Pediat Genet, Cochin, Kerala, India

来源：

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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：

C28.3

引用

页码：128 / 129

页数：2