X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female

There are currently no published cases that report concomitant Turner syndrome (TS), 2q37 deletion syndrome and X-linked hypophosphatemic rickets (XLH). Interestingly, since the clinical phenotypes of TS and 2q37 deletion syndrome overlap, the correct diagnosis may be missed without a standardized a...

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Detalles Bibliográficos
Publicado en:J Bone Metab
Autores principales: Vidmar, Alaina P., Miyazaki, Brian, Sanchez-Lara, Pedro A., Pitukcheewanont, Pisit
Formato: Artigo
Lenguaje:Inglês
Publicado: The Korean Society for Bone and Mineral Research 2017
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5734952/
https://ncbi.nlm.nih.gov/pubmed/29259966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11005/jbm.2017.24.4.257
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