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Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report Cover

Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report

Asian Biomedicine
Volume 16 (2022): Issue 6 (December 2022)
By: Nasim Rahmani,  Mohammad Ahmadvand and  Golnaz Khakpour  
Open Access
|Aug 2023

Authors

Nasim Rahmani

Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran

Mohammad Ahmadvand

Department of Oncology and Stem Cell Transplantation, Shariati Hospital, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Golnaz Khakpour

khakpour.g@iums.ac.ir

Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
Department of Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
DOI: https://doi.org/10.2478/abm-2022-0036 | Journal eISSN: 1875-855X | Journal ISSN: 1905-7415
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Language: English
Page range: 322 - 328
Published on: Aug 1, 2023
Published by: Chulalongkorn University
In partnership with: Paradigm Publishing Services
Publication frequency: 6 issues per year
Keywords:
carrier screening,
exome sequencing,
Van Maldergem syndrome,
FAT4,
congenital anomalies
Related subjects:
Medicine,
Assistive professions, nursing,
Basic medical science,
Basic medical science, other,
Clinical medicine,
Clinical medicine, other

© 2023 Nasim Rahmani, Mohammad Ahmadvand, Golnaz Khakpour, published by Chulalongkorn University
This work is licensed under the Creative Commons Attribution 4.0 License.

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