Novel biallelic ABCC9 loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

被引：0

作者：

Efthymiou, Stephanie ^{[1
]}

Scala, Marcello ^{[1
,2
,3
]}

Nagaraj, Vini ^{[4
,5
,6
]}

Ochenkowska, Katarzyna ^{[7
,8
]}

Komdeur, Fenne ^{[9
,10
]}

Liang, Robin ^{[11
]}

Abdelhamid, Mohamad ^{[12
]}

Sultan, Tipu ^{[13
]}

Baroy, Tuva ^{[14
]}

van Ghelue, Marijke ^{[11
]}

Vona, Barbara ^{[15
,16
,17
]}

Maroofian, Reza ^{[1
]}

Zafar, Faisal ^{[18
,19
]}

Alkuraya, Fowzan ^{[20
]}

Zaki, Maha ^{[21
]}

Severino, MariaSavina ^{[22
]}

Tryon, Robert ^{[23
,24
]}

Brauteset, Lin ^{[25
]}

Duru, Kingsley ^{[4
,5
,6
]}

Ansari, Morad ^{[26
]}

Hamilton, Mark ^{[27
]}

van Haelst, Mieke ^{[9
]}

van Haaften, Gijs ^{[28
]}

Zara, Federico ^{[3
]}

Houlden, Henry ^{[1
]}

Samarut, Eric ^{[7
,8
]}

Nichols, Colin ^{[23
,24
,25
]}

Smeland, Marie Falkenberg ^{[29
,30
]}

McClenaghan, Conor ^{[4
,5
,6
]}

机构：

[1] UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

[2] Univ Genoa, Dept Neurosci Rehab Ophtalmol Genet Maternal & Ch, Genoa, Italy

[3] IRCCS Inst Giannina Gaslini, UOC Genet Med, Genoa, Italy

[4] Rutgers State Univ, Ctr Adv Biotechnol & Med, New Brunswick, NJ USA

[5] Univ Med & Dent New Jersey, Dept Pharmacol, New Brunswick, NJ USA

[6] Univ Med & Dent New Jersey, Dept Med, New Brunswick, NJ USA

[7] Univ Montreal, Ctr Rech Ctr Hosp Univ Montreal, Montreal, PQ, Canada

[8] Dept Neurosci, Montreal, PQ, Canada

[9] Amsterdam Univ Med Ctr, Clin Genet Sect, Dept Human Genet, Amsterdam, Netherlands

[10] Amsterdam Reprod & Dev, Amsterdam, Netherlands

[11] Univ Hosp North Norway, Dept Med Genet, Tromso, Norway

[12] Human Genet & Genome Res Inst, Natl Res Ctr, Med Mol Genet Dept, Cairo, Egypt

[13] Univ Child Hlth Sci, Children Hosp, Dept Pediat Neurol, Lahore, Pakistan

[14] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway

[15] Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany

[16] Inst Auditory Neurosci, Gottingen, Germany

[17] InnerEar Iab, Gottingen, Germany

[18] Childrens Hosp, Dept Pediat neurol, Lahore, Punjab, Pakistan

[19] Inst Child Hlth, Lahore, Punjab, Pakistan

[20] King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh, Saudi Arabia

[21] Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, Cairo, Egypt

[22] IRCCS Inst Giannina Gaslini, Neuroradiol Unit, Genoa, Italy

[23] Washington Univ St Louis, Dept Cell Biol & Physiol, St Louis, MO USA

[24] Ctr Invest Membrane Excitabil Dis, St Louis, MO USA

[25] Innlandet Hosp Sanderud, Div Habilitat Children, Hamar, Norway

[26] Western Gen Hosp, South East Scotland Genet Serv, Edinburgh, Midlothian, Scotland

[27] Queen Elizabeth Univ Hosp, West Scotland Genet Serv, Glasgow, Lanark, Scotland

[28] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands

[29] Univ Hosp North Norway, Dept Pediat Rehabil, Tromso, Norway

[30] UiT Arctic Univ Norway, Tromso, Norway

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

基金：

英国惠康基金;

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：

P10.056.C

引用

页码：1456 / 1456

页数：1

共 41 条

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