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Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
(Wiley-BlackwellFacultad Ciencias de la SaludMedicinaDepartamento de Ciencias Básicas Médicas, 2016-11-01)
Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, ...
Bilateral Anophthalmia in Feline
(Universidade Federal do Rio Grande do Sul, 2021)
Morphological abnormalities in natural populations of the common South American toad Rhinella arenarum inhabiting fluoride-rich environments
(Academic Press Inc Elsevier Science, 2019-08)
Morphological abnormalities in amphibians may be attributed to contaminants, ultraviolet radiation and trematode parasites, or a synergistic effect between them. In the present study, morphological abnormalities in Rhinella ...
Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level
(Springer, 2020-02)
The goal of our study is to describe the prevalence of congenital anomalies (CA) in hospitals of the City of Buenos Aires, Argentina, according to two proxy variables of the socioeconomic level: health subsector, public ...
Characterization and expression analysis of KIT and MITF ‐M genes in llamas and their relation to white coat color
(Wiley Blackwell Publishing, Inc, 2019-02)
The llama (Lama glama) is a fiber-producing species that presents a wide range of coat colors, among which white is one of the most important for the textile industry. However, there is little information about the molecular ...
NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism
(Cell Press, 2021-08-05)
Ultraviolet (UV) light and incompletely understood genetic and epigenetic variations determine skin color. Here we describe an UV- and microphthalmia-associated transcription factor (MITF)-independent mechanism of skin ...
Description of Clinical and Surgical Aspects of Four Cases of Lip Commissure to Eyelid Transposition for Repair of Eyelid Coloboma in Cats
(Universidade Federal do Rio Grande do Sul, 2016)
Congenital Malformations in Sheep - Outbreak Caused by Mimosa tenuiflora
(Universidade Federal do Rio Grande do Sul, 2022)
Genetics of Cleft Lip and Palate: An Overview of Genetic and Environmental Risk FactorsGenética de las fisuras labiopalatinas: una visión general de los factores de riesgo genéticos y ambientalesGenética de fissura labialepalatina:uma visão geral de atores de risco genético e ambiental
(Universidad Militar Nueva Granada, 2022)