Compound heterozygous splicing variants in <scp> <i>KIAA0586</i> </scp> cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis-Reference-Cited by-同舟云学术

Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis

Published:2022-12-20 Issue:3 Volume:11 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Zhao Qianying¹²^ORCID,Xu Bocheng¹²,Xiang Qinqin¹²,Tan Yu¹²,Xie Hanbing¹²,Gao Qianqian²³,Wen Lingyi²⁴,Wang He¹²,Yang Mei¹²^ORCID,Liu Shanling¹²

Affiliation:

1. Department of Obstetrics & Gynecology West China Second University Hospital, Sichuan University Chengdu China

2. Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education Chengdu China

3. Department of Ultrasound West China Second University Hospital, Sichuan University Chengdu China

4. Department of Radiology West China Second University Hospital, Sichuan University Chengdu China

Funder

National Key Research and Development Program of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2124

Reference20 articles.

1. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

2. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

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

4. KIAA0586is Mutated in Joubert Syndrome

5. Joubert Syndrome and related disorders

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