A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family-Reference-Cited by-同舟云学术

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A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family

Published:2020-04-01 Issue:4 Volume:24 Page:217-223
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Hussain Shabir¹,Umm-e-Kalsoom ²,Ullah Irfan³,Liaqat Khurram⁴,Nawaz Shoaib⁴,Ahmad Wasim¹

Affiliation:

1. Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.

2. Department of Biochemistry, Hazara University, Mansehra, Pakistan.

3. Department of Biological Sciences, Shaheed Benazir Bhutto University, Upper Dir, Pakistan.

4. Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2019.0203

Reference28 articles.

1. A method and server for predicting damaging missense mutations

2. Mild nasal clefting may be predictive forALX4heterozygotes

3. Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers

4. Vertical transmission of a frontonasal phenotype caused by a novelALX4mutation

5. A gene expression atlas of early craniofacial development

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Dyrk1a is required for craniofacial development in Xenopus laevis.;Developmental Biology;2024-07

2. Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4;American Journal of Medical Genetics Part A;2023-09-19

3. Relating enhancer genetic variation across mammals to complex phenotypes using machine learning;Science;2023-04-28

4. Relating enhancer genetic variation across mammals to complex phenotypes using machine learning;2022-08-26

5. E-liquids and vanillin flavoring disrupts retinoic acid signaling and causes craniofacial defects in Xenopus embryos;Developmental Biology;2022-01

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