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Neonatal Neurofibromatosis: Diagnosis at Birth

Cristóvão Ferreira, Ana; Soares, Marta P.; Espírito Santo, Rita; Saldanha, Joana

Date: 2023   |   Origin: Portuguese Journal of Pediatrics
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Milky Blood in an Infant

Soares, Marta P.; Rodrigues, Diogo; Ferreira, Raquel; Sequeira, Silvia

Date: 2019   |   Origin: Portuguese Journal of Pediatrics
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Koolen-de Vries syndrome – National Case Series with clinical and molecular cha...

Soares, Marta P.; Rodrigues, Márcia; Dupont, Juliette; Medeira, Ana; Freixo, João; Nunes, Sofia; Cordeiro, Isabel; Travessa, André; Soares, Gabriela

Introduction: Koolen-de Vries Syndrome (KdVS) is a rare genetic condition, caused by a 17q21.31 microdeletion, or a pathogenic variant in KANSL1 gene. The clinical picture includes developmental delay (DD)/intellectual disability (ID) with expressive language particularly impaired, dysmorphisms, neonatal hypotonia, and friendly behaviour. Aim: To characterize at the molecular and clinical levels all patients in...

Date: 2019   |   Origin: Repositório Científico do Instituto Nacional de Saúde
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