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Adding Evidence to the Role of NEUROG1 in Congenital Cranial Dysinnervation Dis...

Dupont, J; Vieira, JP; Tavares, AL; Conceição, C; Khan, S; Bertoli-Avella, AM; Sousa, AB

Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12-year-old boy with hypotonia, developmental delay, sensorineural hearing ...

Date: 2021   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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