Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly

Introduction. Pituitary differentiation involves a large number of transcription factors. In particular, BMP4 expression is fundamental for pituitary gland commitment from the ventral diencephalon, suppressing Shh expression in Rathke's pouch. Pathogenic variants in BMP4 are reported in the lit...

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Detalles Bibliográficos
Autores principales: Calcaterra, Valeria, Lamberti, Rossella, Viggiano, Claudia, Baldassarre, Paola, Spaccini, Luigina, Alfano, Rosa Maria, Izzo, Giana, Valentini, Laura Grazia, Zuccotti, Gianvincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9135578/
https://www.ncbi.nlm.nih.gov/pubmed/35633847
http://dx.doi.org/10.1155/2022/8059409

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