A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature
The two variants observed in our patient, a homozygous missense change and a homozygous deletion interestingly occurring on the same chromosome, lead us to think that either these two conditions may be totally independent of each other, having co-occurred by chance, or there may be an underlying association between the two variants, rendering their co-occurrence as a haplotype more possible.
Authors
- Morteza Heidari (ORCID: https://orcid.org/0000-0002-7487-569X)
- Solmaz Aziz-Ahari
- Shiva Bayat (ORCID: https://orcid.org/0000-0003-4753-8927)
- Ali Talea (ORCID: https://orcid.org/0000-0002-7738-2399)
- Ali Reza Tavasoli (ORCID: https://orcid.org/0000-0003-0440-5809)
- Roya Sinaei (ORCID: https://orcid.org/0000-0001-9029-9330)
- Neda Pak (ORCID: https://orcid.org/0000-0002-3256-3364)
- Golazin Shahbodagh Khan (ORCID: https://orcid.org/0000-0002-3206-5728)
- Mahmoud Reza Ashrafi
Institutions
- Barrow Neurological Institute (US)
- Children's Medical Center (IR)
- Phoenix Children's Hospital (US)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-11-27
- DOI
- https://doi.org/10.1159/000542145
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00