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

• المؤلفون الرئيسيون: Valeria Calcaterra (مؤلف), Rossella Lamberti (مؤلف), Claudia Viggiano (مؤلف), Paola Baldassarre (مؤلف), Luigina Spaccini (مؤلف), Rosa Maria Alfano (مؤلف), Giana Izzo (مؤلف), Laura Grazia Valentini (مؤلف), Gianvincenzo Zuccotti (مؤلف)
• التنسيق: كتاب
• منشور في: Hindawi Limited, 2022-01-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...