Whole exome sequencing identifies a novel compound heterozygous <i>GFM1</i> variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family-Reference-Cited by-同舟云学术

Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family

Published:2022-06-15 Issue:9 Volume:188 Page:2693-2700
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Khan Atta Ullah¹,Khan Ibrar²,Khan Muhammad Ismail³,Latif Muhammad⁴,Siddiqui Muhammad Imran⁵,Khan Shafi Ullah⁶,Htar Thet Thet⁶,Wahid Ghazala⁷,Ullah Ikram⁸,Bibi Fehmida⁹¹⁰,Khan Asifullah¹¹,Naseer Muhammad Imran⁹¹²,Seo Go Hun¹³,Jelani Musharraf²^ORCID

Affiliation:

1. Department of Medicine Pak International Medical College Hayatabad Phase 5 Peshawar Khyber Pakhtunkhwa Pakistan

2. Rare Disease Genetics and Genomics Centre for Omic Sciences Khyber Pakhtunkhwa Pakistan

3. Department of Zoology Islamia College Peshawar Khyber Pakhtunkhwa Pakistan

4. Centre for Genetics and Inherited Diseases (CGID) Taibah University Madinah Saudi Arabia

5. Radiology Department North West General Hospital and Research Center Peshawar Khyber Pakhtunkhwa Pakistan

6. School of Pharmacy Monash University Malaysia Jalan Lagoon Selatan Bandar Sunway 47500 Selangor Malaysia

7. Department of Radiology Hayatabad Medical Complex Peshawar Khyber Pakhtunkhwa Pakistan

8. International Islamic University, Sulaiman Bin Abdullah Aba Al‐Khail Centre for Interdisciplinary Research in Basic Sciences International Islamic University Pakistan

9. Department of Medical Laboratory Technology King Abdulaziz University Jeddah Saudi Arabia

10. Special Infectious Agents Unit, King Fahd Medical Research Centre King Abdulaziz University Jeddah Saudi Arabia

11. Department of Biochemistry Abdul Wali Khan University Mardan (AWKUM) Khyber Pakhtunkhwa Pakistan

12. Center of Excellence in Genomic Medicine Research King Abdulaziz University Jeddah Saudi Arabia

13. 3billion Inc. Seoul Republic of Korea (South Korea)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62856

Reference32 articles.

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3. Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

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5. A Method to Identify Protein Sequences That Fold into a Known Three-Dimensional Structure

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