A novel homozygous truncating variant in <i>PPFIBP1</i> further delineates <i>PPFIBP1</i> ‐associated neurodevelopmental disorder-Reference-Cited by-同舟云学术

A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1 ‐associated neurodevelopmental disorder

Published:2022-12-30 Issue:2 Volume:83 Page:191-200
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Intl J of Devlp Neuroscience

Author:

Waqas Ahmed¹,Liaqat Romana²,Shaheen Sidrah³,Khan Ali Zaman⁴,Mujahid ⁵,Habib Alaa Hamed⁶,Binothman Najat⁷,Aljadani Majidah⁷,Zehri Zamrud⁸,Shaheen Shabnam⁹,Alkathiri Afnan¹⁰,Naz Rubina²,Umair Muhammad¹¹¹²^ORCID,Abbas Safdar¹³

Affiliation:

1. Department Zoology, Division of Science and Technology University of Education Lahore Punjab Pakistan

2. Institute of Chemical Science Gomal University Dera Ismail Khan Khyber Pakhtunkhwa Pakistan

3. Department of Higher Education Government Girls degree College No. 1 Mansehra Khyber Pakhtunkhwa Pakistan

4. Department of Surgery Surgical Ward ‘A’, Khyber Teaching Hospital Peshawar Khyber Pakhtunkhwa Pakistan

5. Center of Animal Nutrition Directorate General of Livestock & Dairy Development Peshawar Khyber Pakhtunkhwa Pakistan

6. Department of Physiology, Faculty of Medicine King Abdulaziz University Jeddah Saudi Arabia

7. Department of Chemistry, College of Sciences and Arts King Abdulaziz University Rabigh Saudi Arabia

8. Shaheed Nawab Ghous Bakhsh Raisani Memorial Hospital Mastung Balochistan Pakistan

9. Department of Higher Education Government Girls Degree College Lakki Marwat Khyber Pakhtunkhwa Pakistan

10. Medical Genetics, Laboratory Medicine Department, Faculty of Applied Medical Sciences Albaha University Albaha Saudi Arabia

11. Department of Life Sciences, School of Science University of Management and Technology Lahore Punjab Pakistan

12. Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH) Riyadh Saudi Arabia

13. Department of Biological Science Dartmouth College Hanover NH USA

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jdn.10247

Reference27 articles.

1. Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

2. Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia

3. Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach

4. Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia

5. MutatedRAP1GDS1causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

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