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Asian Biomedicine
Volume 16 (2022): Issue 6 (December 2022)
Open Access
Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report
Nasim Rahmani
Nasim Rahmani
,
Mohammad Ahmadvand
Mohammad Ahmadvand
and
Golnaz Khakpour
Golnaz Khakpour
| Aug 01, 2023
Asian Biomedicine
Volume 16 (2022): Issue 6 (December 2022)
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Article Category:
Clinical vignettes
Published Online:
Aug 01, 2023
Page range:
322 - 328
DOI:
https://doi.org/10.2478/abm-2022-0036
Keywords
carrier screening
,
exome sequencing
,
Van Maldergem syndrome
,
FAT4
,
congenital anomalies
© 2023 Nasim Rahmani et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.