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H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
Am J Med Genet A. 2023 Jul;191(7):1911-1916. doi: 10.1002/ajmg.a.63193. Epub 2023 Mar 29.
Am J Med Genet A. 2023.
PMID: 36987712
Free PMC article.
Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review.
Lang SH, Camponeschi F, Joya E, Borjas-Mendoza P, Tekin M, Thorson W.
Lang SH, et al. Among authors: borjas mendoza p.
Genes (Basel). 2022 Nov 6;13(11):2044. doi: 10.3390/genes13112044.
Genes (Basel). 2022.
PMID: 36360281
Free PMC article.
Review.
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Beckwith-Wiedemann Syndrome.
Borjas Mendoza PA, Daley SF, Mendez MD.
Borjas Mendoza PA, et al.
2024 Jan 7. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
2024 Jan 7. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
PMID: 32644419
Free Books & Documents.
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Two novel heterozygous exonic deletions lead to Chanarin-Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction.
Zoullas S, Morel D, Zafeer F, Borjas-Mendoza P, Angeli S, Zhou Y, Bademci G, Tekin M.
Zoullas S, et al. Among authors: borjas mendoza p.
Am J Med Genet A. 2024 Apr;194(4):e63481. doi: 10.1002/ajmg.a.63481. Epub 2023 Nov 20.
Am J Med Genet A. 2024.
PMID: 37984424
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