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

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 downstre...

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Pubblicato in:BMC Med Genomics
Autori principali: Monzani, Alice, Babu, Deepak, Mellone, Simona, Genoni, Giulia, Fanelli, Antonella, Prodam, Flavia, Bellone, Simonetta, Giordano, Mara
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6327496/
https://ncbi.nlm.nih.gov/pubmed/30626445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0445-8
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