A novel de novo variant in the <i>PHF21A</i> causes craniofacial abnormalities, intellectual disability and skeletal manifestations-Reference-Cited by-同舟云学术

A novel de novo variant in the PHF21A causes craniofacial abnormalities, intellectual disability and skeletal manifestations

Published:2023-03-13 Issue:1 Volume:104 Page:142-144
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Mustafa Sumayya¹,Abbas Safdar²,Mahmood Arif³^ORCID,Khan Ali Zaman⁴,Zeb Shah⁵⁶,Khan Amjad⁷,Umair Muhammad⁸⁹

Affiliation:

1. Molecular Biology Reference Lab (MBRL) Alpha Genomics Private Limited Islamabad Pakistan

2. Department of Biological Science Dartmouth College Hanover New Hampshire USA

3. Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences Central South University Changsha China

4. Department of Surgery Khyber Teaching Hospital Peshawar Pakistan

5. Institute for Advanced Study Shenzhen University Shenzhen China

6. College of Physics and Optoelectronics Engineering Shenzhen University Shenzhen China

7. Faculty of Science, Department of Biological Sciences (Zoology) University of Lakki Marwat Lakki Marwat Pakistan

8. 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

9. Department of Life Sciences School of Science, University of Management and Technology (UMT) Lahore Pakistan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14317

Reference5 articles.

1. Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

2. Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)

3. Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development

4. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism