Consideration of Genetic Diagnoses of Developmental Delay in Children of Consanguineous Families.
Sign Up to like & getrecommendations! Published in 2018 at "Seminars in pediatric neurology"
DOI: 10.1016/j.spen.2017.03.007
Abstract: In patients presenting with global developmental day, eliciting a history of consanguinity may increase a clinician׳s bias toward suspecting an autosomal recessive etiology. We present 3 cases wherein children of consanguineous parents presented to the… read more here.
Keywords: neurology; developmental delay; children consanguineous; consideration genetic ... See more keywords
Novel Genetic Diagnoses in Septo-Optic Dysplasia
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DOI: 10.3390/genes13071165
Abstract: Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases. While disruption of… read more here.
Keywords: novel genetic; optic dysplasia; septo optic; genetic diagnoses ... See more keywords