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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
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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