LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

The risk of nonsyndromic cleft lip with or without cleft palate and Vax1 rs7078160 polymorphisms in southern Han Chinese

Wang, Qian; Sun, Sichao; Song, Qinggao; Hu, Huan; An, Jiaxing; Liu, Jianguo.

Braz. j. otorhinolaryngol. (Impr.); 87 (6), 2021

Abstract Introduction: Non-syndromic cleft lip with or without cleft palate is a common worldwide birth defect due to a combination of environmental and genetic factors. Genome-wide association studies reported the rs7078160 of Vax1 is closely related to non-syndromic cleft lip with or without cleft pal...

Estudios de Casos y Controles, China, Labio Leporino/genética, Fisura del Paladar/genética, Predisposición Genética a la Enfermedad, Estudio de Asociación del Genoma Completo, Genotipo, Proteínas de Homeodominio/genética, Polimorfismo de Nucleótido Simple, Factores de Transcripción/genética

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Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

ABSTRACT The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different pathogeni...