The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review
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DOI: 10.1002/mgg3.2066
Abstract: 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… read more here.
Keywords: bptf gene; gene variants; growth hormone; effect growth ... See more keywords