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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2014
Onderwerpen:
Case Report
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items