A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review

BACKGROUND: Deletions on the distal portion of the long arm of chromosome 6 are relatively uncommon, and only a small number occurs in the paternal copy, causing growth abnormalities. As a result, extensive clinical descriptions are lacking. CASE PRESENTATION: We describe a male of Italian descent b...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Stagi, Stefano, Lapi, Elisabetta, Pantaleo, Marilena, Carella, Massimo, Petracca, Antonio, De Crescenzo, Agostina, Zelante, Leopoldo, Riccio, Andrea, de Martino, Maurizio
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4593197/
https://ncbi.nlm.nih.gov/pubmed/26297663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0212-z
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