Novel variants and phenotypes of ROBO3 gene associated with horizontal gaze palsy with progressive scoliosis

被引：0

作者：

Xie Yan ^{[1
]}

Huang Lijuan ^{[2
]}

Zhou Yunyu ^{[1
]}

Wu Jin ^{[3
]}

Li Ningdong ^{[1
,2
,4
,5
]}

机构：

[1] Department of Ophthalmology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

[2] Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Fujian, China

[3] Department of Ophthalmology, Shenzhen Children’s Hospital, Guangdong, China

[4] Department of Ophthalmology, Shanghai General Hospital, Shanghai, China

[5] Department of Ophthalmology, Children’s Hospital, Capital Institute of Pediatrics, Beijing,

来源：

儿科学研究（英文） | 2024年 / 08卷 / 01期

关键词：

D O I：

暂无

中图分类号：

R682.3 [脊柱姿势性畸形];

学科分类号：

摘要：

<正>

引用

共 9 条

[1] Autocrine/Paracrine Slit–Robo Signaling Controls Optic Lobe Development in Drosophila melanogaster.[J].González Ramírez M. Constanza;Rojo Cortés Francisca;Candia Noemí;Garay Montecinos Jorge;Guzmán Palma Pablo;Campusano Jorge M.;Oliva Carlos.Frontiers in Cell and Developmental Biology.2022,
[2] A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development..[J].Zaka Ayesha;Shahzad Shaheen;Rao Hadi Zahid;Hashim Yasmin;Basit Sulman.American journal of medical genetics. Part A.2020, 2
[3] Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family..[J].Xiu Yanghui;Lv Zhe;Wang Danni;Chen Xuejiao;Huang Songmu;Pan Meihua.Journal of molecular neuroscience : MN.2020, prepublish
[4] Biallelic mutations in human DCC cause developmental split-brain syndrome
Jamuar, Saumya S.
Schmitz-Abe, Klaus
D'Gama, Alissa M.
Drottar, Marie
Chan, Wai-Man
Peeva, Maya
Servattalab, Sarah
Lam, Anh-Thu N.
Delgado, Mauricio R.
Clegg, Nancy J.
Al Zayed, Zayed
Dogar, Mohammad Asif
Alorainy, Ibrahim A.
Abu Jamea, Abdullah
Abu-Amero, Khaled
Griebel, May
Ward, Wendy
Lein, Ed S.
Markianos, Kyriacos
Barkovich, A. James
Robson, Caroline D.
Grant, P. Ellen
Bosley, Thomas M.
Engle-, Elizabeth C.
Walsh, Christopher A.
Yu, Timothy W.
[J]. NATURE GENETICS, 2017, 49 (04) : 606 - +
[5] Operational redundancy in axon guidance through the multifunctional receptor Robo3 and its ligand NELL2
Jaworski, Alexander
Tom, Irene
Tong, Raymond K.
Gildea, Holly K.
Koch, Alexander W.
Gonzalez, Lino C.
Tessier-Lavigne, Marc
[J]. SCIENCE, 2015, 350 (6263) : 961 - 965
[6] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Richards, Sue
Aziz, Nazneen
Bale, Sherri
Bick, David
Das, Soma
Gastier-Foster, Julie
Grody, Wayne W.
Hegde, Madhuri
Lyon, Elaine
Spector, Elaine
Voelkerding, Karl
Rehm, Heidi L.
[J]. GENETICS IN MEDICINE, 2015, 17 (05) : 405 - 424
[7] Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3
Bosley, TM
Salih, MAM
Jen, JC
Lin, DDM
Oystreck, D
Abu-Amero, KK
MacDonald, DB
al Zayed, Z
al Dhalaan, H
Kansu, T
Stigsby, B
Baloh, RW
[J]. NEUROLOGY, 2005, 64 (07) : 1196 - 1203
[8] MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis
Rossi, A
Catala, M
Biancheri, R
Di Comite, R
Tortori-Donati, P
[J]. AMERICAN JOURNAL OF NEURORADIOLOGY, 2004, 25 (06) : 1046 - 1048
[9] Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
Jen, JC
Chan, WM
Bosley, TM
Wan, JJ
Carr, JR
Rüb, U
Shattuck, D
Salamon, G
Kudo, LC
Ou, J
Lin, DDM
Salih, MAM
Kansu, T
al Dhalaan, H
al Zayed, Z
MacDonald, DB
Stigsby, B
Plaitakis, A
Dretakis, EK
Gottlob, I
Pieh, C
Traboulsi, EI
Wang, Q
Wang, LJ
Andrews, C
Yamada, K
Demer, JL
Karim, S
Alger, JR
Geschwind, DH
Deller, T
Sicotte, NL
Nelson, SF
Baloh, RW
Engle, EC
[J]. SCIENCE, 2004, 304 (5676) : 1509 - 1513

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