ArticleInternational journal of molecular sciences2026
Expanding the Clinical and Molecular Spectrum of Cartilage-Hair Hypoplasia in the Mexican Population.
Kiabeth Robles-Espinoza, Eduardo Esparza-García, Jorge Román Corona-Rivera, Mariana Pérez-Coria, Perla Graciela Rodríguez-Gutiérrez, Juan Ramón González García, María Teresa Magaña-Torres
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In one paragraphArticle in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 · Who and what moneyAuthors and funding
7 authors.
Kiabeth Robles-EspinozaDivisión de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico.ORCID 0000-0002-1036-3249 Eduardo Esparza-GarcíaUMAE Hospital de Pediatría del Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Av. Belisario Domínguez 735, La Perla, Guadalajara 44360, Jalisco, Mexico.ORCID 0000-0001-6451-0366 Jorge Román Corona-RiveraCenter for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit-'Dr. Enrique Corona-Rivera' Institute of Human Genetics, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara (HCG), Guadalajara 44340, Jalisco, Mexico.
Mariana Pérez-CoriaUMAE Hospital de Pediatría del Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Av. Belisario Domínguez 735, La Perla, Guadalajara 44360, Jalisco, Mexico.
Perla Graciela Rodríguez-GutiérrezDivisión de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico.
Juan Ramón González GarcíaDivisión de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico.
María Teresa Magaña-TorresDivisión de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico.ORCID 0000-0002-9843-0644 Funding
INSTITUTO MEXICANO DEL SEGURO SOCIAL R-2022-785-001
6 · The paper itselfAbstract
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia caused by variants in
Indexed as
HairHirschsprung DiseaseOsteochondrodysplasiasRNA, Long NoncodingChildChild, PreschoolFemaleHumansImmunologic Deficiency SyndromesInfantMaleMexicoMutationPhenotypePrimary Immunodeficiency DiseasesPromoter Regions, GeneticRMRP non-coding RNA, humanRNA, Long Noncodingcartilage-hair hypoplasianovel promoter deletion n.-39_-19delRMRPskeletal dysplasia
Identifiers
PMID42884058
PMCPMC13665374
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