Gabriele-de Vries syndrome: exploring the phenotype of a recently described genetic disorder
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Presenting Author - Mariane Tomiyoshi Asato, MD; Co-Author - April Lehman, MD; Co-Author - Andrea Wilhelm, GC; Co-Author - Kara TO. Pappas, M.D.;
Meta Tag
Delineation of Diseases
Dysmorphology
Genome sequencing
Phenotype
Co-Author April Lehman, MD
Co-Author Andrea Wilhelm, GC
Co-Author Kara TO. Pappas, M.D.
Presenting Author Mariane Tomiyoshi Asato, MD
Keywords
Gabriele-de Vries syndrome
GdVS
developmental delay
intellectual disability
dysmorphic features
craniosynostosis
sensorineural hearing loss
cardiac malformation
hypotonia
behavioral issues

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