2020
DOI: 10.1016/j.anpedi.2019.03.010
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Primer caso español de discapacidad intelectual sindrómica con dismorfia facial, crisis y anomalías de extremidades por mutaciones bialélicas en el gen OTUD6B

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Cited by 5 publications
(23 citation statements)
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“…Due to the rarity of this syndrome and the scarce literature available, Table 1 presents the clinical and molecular findings of the 16 patients described to date, 1 -4 including the present case. This aids in visualizing the similarities and differences among patients in terms of the variants reported previously.…”
Section: Discussionmentioning
confidence: 99%
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“…Due to the rarity of this syndrome and the scarce literature available, Table 1 presents the clinical and molecular findings of the 16 patients described to date, 1 -4 including the present case. This aids in visualizing the similarities and differences among patients in terms of the variants reported previously.…”
Section: Discussionmentioning
confidence: 99%
“…Moreover, craniofacial dysmorphism, cardiologic malformations, and recurrent respiratory infections are frequently associated clinical features and appear to be dependent on a specific variant (ie, c.433C>T). 1,3…”
Section: Discussionmentioning
confidence: 99%
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