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

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

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...

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Bibliographic Details
Main Authors: Alice Monzani, Deepak Babu, Simona Mellone, Giulia Genoni, Antonella Fanelli, Flavia Prodam, Simonetta Bellone, Mara Giordano
Format: Article
Language:English
Published: BMC 2019-01-01
Series:BMC Medical Genomics
Subjects:
Short stature
SHOX
Enhancers
CGH array
Online Access:http://link.springer.com/article/10.1186/s12920-018-0445-8

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