Article
The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review.
Molecular genetics & genomic medicine - 1 Jan 2023
Wu Wenyong, Chen Ruimin
Abstract excerpt
BACKGROUND: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is a rare neurodevelopmental disease caused by BPTF gene variants. To date, there are only 36 cases reported in the literature, and patients mainly presented with a developmental delay, language delay, and microcephaly. About 35% of the patients had short stature, but there had no reports published on the treatment....
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