Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva
Our study highlights the progressive nature of the disease and the importance of early diagnosis to avoid lethal complications such as locked jaw and airway obstructions that affect swallowing and breathing. An early accurate diagnosis gives an opportunity for the affected individuals in the future to be candidates for the agonist Palovarotene drug that prevents the complications arising from ectopic ossification.
Authors
- Hala T. El‐Bassyouni (ORCID: https://orcid.org/0000-0001-9825-1219)
- Khaled H. Hamed (ORCID: https://orcid.org/0000-0002-8546-5207)
- Engy A. Ashaat (ORCID: https://orcid.org/0000-0002-2116-1570)
- Nehal F. Hassib (ORCID: https://orcid.org/0000-0001-8902-9018)
- Ghada M. H. Abdel‐Salam (ORCID: https://orcid.org/0000-0003-2893-8802)
- Mohamed Ahmed Al Kersh (ORCID: https://orcid.org/0000-0003-4656-2642)
- Mennat Mehrez (ORCID: https://orcid.org/0000-0003-4500-4024)
- Hasnaa M. Elbendary (ORCID: https://orcid.org/0000-0002-4127-7896)
- Mona Aglan (ORCID: https://orcid.org/0000-0002-0908-0639)
- Rasha Moheb Elhossini (ORCID: https://orcid.org/0000-0003-1498-6619)
- Adel Mohamed Ashour (ORCID: https://orcid.org/0000-0003-1847-7125)
- Ibrahim Hegazy
- Mohamed S. Abdel‐Hamid (ORCID: https://orcid.org/0000-0002-2480-0147)
- Amal Ibrahim Ahmed Othman (ORCID: https://orcid.org/0000-0002-3264-0091)
- Sawsan Abdel-Hadi
- Doaa Soliman
Institutions
- Ain Shams University (EG)
- Cairo University (EG)
- Benha University (EG)
- Nile University (UG)
- National Research Centre (EG)
- Children Cancer Hospital (EG)
Publication Details
- Journal
- Clinical Dysmorphology
- Published
- 2025-02-26
- DOI
- https://doi.org/10.1097/mcd.0000000000000515
- Primary Topic
- Heterotopic Ossification and Related Conditions
- Type
- article
- Field-Weighted Citation Impact
- 0.00