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

• मुख्य लेखकों: Alice Monzani (लेखक), Deepak Babu (लेखक), Simona Mellone (लेखक), Giulia Genoni (लेखक), Antonella Fanelli (लेखक), Flavia Prodam (लेखक), Simonetta Bellone (लेखक), Mara Giordano (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...