Article
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
Hormone research in paediatrics - 1 Jan 2018
Homma Thais K, Krepischi Ana C V, Furuya Tatiane K, Honjo Rachel S, Malaquias Alexsandra C, Bertola Debora R, Costa Silvia S, Canton Ana P, Roela Rosimeire A, Freire Bruna L, Kim Chong A, Rosenberg Carla, Jorge Alexander A L
Abstract excerpt
BACKGROUND/AIMS: Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short stature of unknown cause. METHODS: We selected 229 children with short stature and dysmorphic features, developmental delay, and/or intellectual disability, but without a recognized syndrome. All...
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