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

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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

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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,

congenital anomalies

Related subjects:

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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