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

• Главные авторы: Alice Monzani (Автор), Deepak Babu (Автор), Simona Mellone (Автор), Giulia Genoni (Автор), Antonella Fanelli (Автор), Flavia Prodam (Автор), Simonetta Bellone (Автор), Mara Giordano (Автор)
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• Опубликовано: BMC, 2019-01-01T00:00:00Z.
• Предметы: article
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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...