A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene
出版年份 2023 全文链接
标题
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene
作者
关键词
-
出版物
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
Volume 51, Issue 10, Pages -
出版商
SAGE Publications
发表日期
2023-11-02
DOI
10.1177/03000605231206294
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Genotype–phenotype correlates in Joubert syndrome: A review
- (2022) Simone Gana et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Structure of the human Meckel-Gruber protein Meckelin
- (2021) Dongliang Liu et al. Science Advances
- Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report
- (2020) Thi Phuong Hoa Bui et al. BMC Medical Genetics
- Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders
- (2020) Akella Radha Rama Devi et al. PEDIATRIC NEUROLOGY
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
- (2015) R Bachmann-Gagescu et al. JOURNAL OF MEDICAL GENETICS
- The CARE Guidelines: Consensus-Based Clinical Case Reporting Guideline Development
- (2013) Joel J. Gagnier et al. HEADACHE
- Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects
- (2013) Zakia A. Abdelhamed et al. HUMAN MOLECULAR GENETICS
- MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
- (2011) Corey L. Williams et al. JOURNAL OF CELL BIOLOGY
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
- (2011) Francesc R Garcia-Gonzalo et al. NATURE GENETICS
- Joubert Syndrome and related disorders
- (2010) Francesco Brancati et al. Orphanet Journal of Rare Diseases
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
- (2009) E A Otto et al. JOURNAL OF MEDICAL GENETICS
- Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
- (2009) D. Doherty et al. JOURNAL OF MEDICAL GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now