Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review

Coffin-Siris syndrome (CSS) is a rare genetic disorder caused by the haploinsufficiency of one of the various genes that are part of the Brahma/BRG1-associated factor (BAF) complex. The BAF complex is one of the chromatin remodeling complexes, involved in embryonic and neural development, and variou...

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Detalles Bibliográficos
Autores principales: Bilha, Stefana Catalina, Teodoriu, Laura, Velicescu, Cristian, Caba, Lavinia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: UMF “Gr. T. Popa” Iasi Publishing House 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9512126/
https://www.ncbi.nlm.nih.gov/pubmed/36176497
http://dx.doi.org/10.22551/2022.36.0903.10216

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