Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies

• Main Authors: Alice Monzani (Author), Deepak Babu (Author), Simona Mellone (Author), Giulia Genoni (Author), Antonella Fanelli (Author), Flavia Prodam (Author), Simonetta Bellone (Author), Mara Giordano (Author)
• Format: Book
• Published: BMC, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Mutations of SHOX represent the most frequent monogenic cause of short stature and related syndromes. The genetic alterations include point mutations and deletions/duplications spanning both SHOX and its regulatory regions, although microrearrangements are confined to either the...