An expansion of phenotype: novel homozygous variant in the <i>MED17</i> identified in patients with progressive microcephaly and global developmental delay-Reference-Cited by-同舟云学术

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay

Published:2022-10-02 Issue:4 Volume:36 Page:108-114
ISSN:0167-7063
Container-title:Journal of Neurogenetics
language:en
Short-container-title:Journal of Neurogenetics

Author:

Rafiullah Rafiullah¹,Albalawi Alia M.²,Alaradi Sultan R.³,Alluqmani Majed⁴,Mushtaq Muhammad¹,Wali Abdul¹,Basit Sulman²⁵

Affiliation:

1. Department of Biotechnology, Faculty of Life Sciences & Informatics, BUITEMS, Quetta, Pakistan

2. Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia

3. Department of Laboratory and Blood Bank, Alwajh General Hospital, Ministry of Health, Alwajh, Saudi Arabia

4. College of Medicine, Taibah University, Madinah, Saudi Arabia

5. Department of Biochemistry and Molecular Medicine, College of Medicine, Taibah University, Madinah, Saudi Arabia

Publisher

Informa UK Limited

Subject

Cellular and Molecular Neuroscience,Genetics

Link

https://www.tandfonline.com/doi/pdf/10.1080/01677063.2022.2149748

Reference33 articles.

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2. Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature

3. The etiology of developmental delay

4. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

5. Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience

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