Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome-Reference-Cited by-同舟云学术

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Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome

Published:2020-07-31 Issue:6 Volume:80 Page:455-463
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Int. j. dev. neurosci.

Author:

Liu Qiuyan¹^ORCID,Wang Haiqiao²,Zhao Jianhui¹,Liu Zhicui¹,Sun Dianrong¹,Yuan Aiyun¹,Luo Guangjin¹,Wei Wei³,Hou Mei¹

Affiliation:

1. Department of Neurology and Rehabilitation Qingdao Women and Children's HospitalQingdao University Qingdao P.R. China

2. Department of Traditional Chinese Medicine School of Medicine Ren Ji HospitalShanghai Jiaotong University Shanghai P.R. China

3. Kangso Medical Inspection Co., Ltd Beijing P.R. China

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jdn.10029

Reference36 articles.

1. A method and server for predicting damaging missense mutations

2. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

3. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral‐facial‐digital syndrome type VI;Bayram Y.;American Journal of Medical Genetics. Part A,2015

4. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

5. Joubert Syndrome and related disorders

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1. Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome;Open Life Sciences;2023-01-01

2. CPLANE Complex and Ciliopathies;Biomolecules;2022-06-17

3. Joubert's Syndrome and neurofibromatosis type 1;REV NEUROLOGIA;2022

4. Genotype–phenotype correlates in Joubert syndrome: A review;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-03

5. Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome;Molecular Genetics & Genomic Medicine;2022-01-29

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