Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes Article Swipe

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John Wong , Desmond Campbell , Ngoc Diem Ngo , Fanny Yeung , Guo Cheng , Clara Sze-Man Tang , Bhy Chung , Ngoc Son Tran , Man‐Ting So , Stacey S. Cherny , Pak C. Sham , Paul Kwong Hang Tam , María-Mercé García-Barceló ·

YOU? · · 2016 · Open Access · · DOI: https://doi.org/10.1186/s12920-016-0236-z

Our data supports a strong genetic basis for CDD and show that CDD is not only genetically heterogeneous but also non-monogenic, requiring mutations in more than one genes for the disease to develop. The data is consistent with the rarity and sporadic presentation of CDD.

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Exome sequencing Biology Genetics Missense mutation Exome Gene Human genetics Proband Genetic heterogeneity Bioinformatics Mutation Phenotype

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Type: article
Language: en
Landing Page: https://doi.org/10.1186/s12920-016-0236-z
PDF: https://bmcmedgenomics.biomedcentral.com/track/pdf/10.1186/s12920-016-0236-z
OA Status: gold
Cited By: 24
References: 45
Related Works: 10
OpenAlex ID: https://openalex.org/W2565440951

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DOI: https://doi.org/10.1186/s12920-016-0236-z

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Title: Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes

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Type: article

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Language: en

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Publication year: 2016

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Publication date: 2016-12-01

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Authors: John Wong, Desmond Campbell, Ngoc Diem Ngo, Fanny Yeung, Guo Cheng, Clara Sze-Man Tang, Bhy Chung, Ngoc Son Tran, Man‐Ting So, Stacey S. Cherny, Pak C. Sham, Paul Kwong Hang Tam, María-Mercé García-Barceló

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Landing page: https://doi.org/10.1186/s12920-016-0236-z

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Concepts: Exome sequencing, Biology, Genetics, Missense mutation, Exome, Gene, Human genetics, Proband, Genetic heterogeneity, Bioinformatics, Mutation, Phenotype

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Cited by: 24

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Citations by year (recent): 2025: 1, 2024: 4, 2023: 3, 2022: 5, 2021: 4

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References (count): 45

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Related works (count): 10

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