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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2014
Θέματα:
Case Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3975945/
https://ncbi.nlm.nih.gov/pubmed/24581273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-7-17
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