Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23

BACKGROUND: Microdeletions of 14q22q23 have been associated with eye abnormalities and pituitary defects. Other phenotypic features in deletion carriers including hearing loss and response to growth hormone therapy are less well recognized. We studied genotype and phenotype of three newly identified...

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Detalles Bibliográficos
Autores principales: Brisset, Sophie, Slamova, Zuzana, Dusatkova, Petra, Briand-Suleau, Audrey, Milcent, Karen, Metay, Corinne, Simandlova, Martina, Sumnik, Zdenek, Tosca, Lucie, Goossens, Michel, Labrune, Philippe, Zemankova, Elsa, Lebl, Jan, Tachdjian, Gerard, Sedlacek, Zdenek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975945/
https://www.ncbi.nlm.nih.gov/pubmed/24581273
http://dx.doi.org/10.1186/1755-8166-7-17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975945/
https://www.ncbi.nlm.nih.gov/pubmed/24581273
http://dx.doi.org/10.1186/1755-8166-7-17

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