Clinical and genetic characterization of patients segregating variants in KPTN , MINPP1 , NGLY1 , AP4B1 , and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion-Reference-Cited by-同舟云学术

Clinical and genetic characterization of patients segregating variants in KPTN , MINPP1 , NGLY1 , AP4B1 , and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion

Published:2022-10-11 Issue:8 Volume:82 Page:788-804
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Intl J of Devlp Neuroscience

Author:

Ullah Asmat¹²^ORCID,Shah Abid Ali¹³,Alluqmani Majed⁴,Haider Nighat⁵^ORCID,Aman Hasan⁶,Alfadhli Fatima⁷,Almatrafi Ahmad M.⁸^ORCID,Albalawi Alia M.⁹,Krishin Jai⁵^ORCID,Ullah Khan Fati¹,Anjam Bilal Ali⁵,Abdullah ¹,Lozano Elionora Peña²,Samad Abdus¹⁰,Ahmad Wasim¹^ORCID,Hansen Torben²,Xia Kun³,Basit Sulman⁴⁹^ORCID

Affiliation:

1. Department of Biochemistry, Faculty of Biological Sciences Quaid‐i‐Azam University Islamabad Pakistan

2. Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark

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

4. Department of Biochemistry and Molecular Medicine, College of Medicine Taibah University Medina Medina Saudi Arabia

5. Shaheed Zulfiqar Ali Bhutto Medical University, Department of Pediatrics Pakistan Institute of Medical Sciences Islamabad Pakistan

6. Al‐Amal Hospital, Ministry of Health Medina Saudi Arabia

7. Department of Genetics Medina Maternity and Children Hospital Medina Saudi Arabia

8. Department of Biology, College of Science Taibah University Medina Medina Saudi Arabia

9. Center for Genetics and Inherited Diseases Taibah University Medina Medina Saudi Arabia

10. Department of Biochemistry Abdul Wali khan Univeristy Mardan Mardan Pakistan

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jdn.10231

Reference73 articles.

1. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

2. Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

3. Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty

4. A novel homozygous AP4B1 mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies

5. Hepatic Ins(1,3,4,5)P4 3-phosphatase is compartmentalized inside endoplasmic reticulum.

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