The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review

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,...

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Detalles Bibliográficos
Autores principales: Wu, Wenyong, Chen, Ruimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834177/
https://www.ncbi.nlm.nih.gov/pubmed/36153657
http://dx.doi.org/10.1002/mgg3.2066

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834177/
https://www.ncbi.nlm.nih.gov/pubmed/36153657
http://dx.doi.org/10.1002/mgg3.2066

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