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Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature.
Clin Dysmorphol. 2024 Dec 10. doi: 10.1097/MCD.0000000000000510. Online ahead of print.
Clin Dysmorphol. 2024.
PMID: 39807610
No abstract available.
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.
Makay P, Mubungu G, Mupuala A, Bluske K, Brown C, Schmidt SA, Ngole M, Fuanani P, Perry DL, Lukusa P, Devriendt K, Taft RJ, Lumaka A.
Makay P, et al. Among authors: fuanani p.
Am J Med Genet A. 2022 Sep;188(9):2825-2831. doi: 10.1002/ajmg.a.62855. Epub 2022 Jun 7.
Am J Med Genet A. 2022.
PMID: 35670385
Free article.
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