Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth

CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene. Growth retardation is a characteristic finding and about 10% of cases present growth hormone (GH) deficiency. GH treatment of short stature in CHARGE syndrome has s...

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Detalles Bibliográficos
Autores principales: Costa, Carla, Coutinho, Eduarda, Santos-Silva, Rita, Castro-Correia, Cíntia, Lemos, Manuel Carlos, Fontoura, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522080/
https://www.ncbi.nlm.nih.gov/pubmed/32267359
http://dx.doi.org/10.20945/2359-3997000000231

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