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A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
ArticleAbstract: A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a posPalabras claves:Autores:Arianne Llamos Paneque, Hosomichi K., Juan Carlos Pozo-Palacios, Liehr T., Samantha Sáenz Hinojosa, Tajima A., Vanessa RomeroFuentes:googlescopusNovel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
ArticleAbstract: Background: Campomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital systPalabras claves:campomelic dysplasia, ECUADOR, high-mobility group box (HMG), self-dimerization domain (DIM), SOX9 geneAutores:Carlos A. Calvache, Estefanía C. Vásquez, Hosomichi K., Juan C. Pozo, Vanessa RomeroFuentes:scopusNovel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case Report
ArticleAbstract: Multiple non-related neoplasia does not have an established approach or benefits for performing wholPalabras claves:ACSL6, astrocytoma, Breast, missense, thyroidAutores:Benjamín Arias-Almeida, Erick Freire, Hosomichi K., María Isabel Castillo, Reyes C., Vanessa RomeroFuentes:scopusNovel ribosomal protein L26 variant and modeling in a patient with Diamond–Blackfan anemia: Case report
OtherAbstract:Palabras claves:Autores:Benjamín Arias-Almeida, Diana Paredes, Diana Peñaloza, Hosomichi K., Reyes C., Vanessa RomeroFuentes:scopusThe limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review
ReviewAbstract: Background: The diagnostic process for uncommon disorders with similar manifestations is complicatedPalabras claves:ATRX syndrome, Rare Diseases, Whole exome sequencingAutores:Arias B., Hosomichi K., Samantha S. Sáenz, Vanessa RomeroFuentes:scopus