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

• Main Authors: Valeria Calcaterra (Author), Rossella Lamberti (Author), Claudia Viggiano (Author), Paola Baldassarre (Author), Luigina Spaccini (Author), Rosa Maria Alfano (Author), Giana Izzo (Author), Laura Grazia Valentini (Author), Gianvincenzo Zuccotti (Author)
• Format: Book
• Published: Hindawi Limited, 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...