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Cited by 5 publications
(6 citation statements)
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“…However, due the relative rarity and phenotypic variability, this syndrome is usually diagnosed late [26]. Our 13-yearold patient had earlier indications of the syndrome, such as polydactyly, Sprengel anomaly, prominent frontal bossing and hypertelorism, but it was only due to the swelling in the face that the family sought the health professional and the final diagnosis of NBCCS was confirmed.…”
Section: Discussionmentioning
confidence: 68%
“…However, due the relative rarity and phenotypic variability, this syndrome is usually diagnosed late [26]. Our 13-yearold patient had earlier indications of the syndrome, such as polydactyly, Sprengel anomaly, prominent frontal bossing and hypertelorism, but it was only due to the swelling in the face that the family sought the health professional and the final diagnosis of NBCCS was confirmed.…”
Section: Discussionmentioning
confidence: 68%
“…The diagnosis of NBCCS is made by the presence of two major and one minor criteria or one major and three minor criteria, put forward by Evans et al [ 5 ] and later modified by Kimonis et al [ 6 ] These are summarised in Table 1 . [ 9 ]…”
Section: Discussionmentioning
confidence: 99%
“…Esta mutación es transmitida de forma autosómico dominante con un alto grado de penetrancia (aproximadamente 97%) y una expresividad variable. Fue reportado por primera vez, en 1894, por Jarisch y White, y descrito posteriormente, entre 1950 y 1960, por Gorlin y Goltz 1,2 .…”
Section: Introductionunclassified