Joubert syndrome with multiple pituitary hormone deficiency

Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies and complex midbrain–hindbrain malformations. A few cases of JS with multiple pituitary hormone deficiency (MPHD) have been reported in literature. Here, we presented an unusual presentat...

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Podrobná bibliografie
Vydáno v:BMJ Case Rep
Hlavní autoři: Akcan, Nese, Bas, Firdevs, Poyrazoglu, Sukran, Bundak, Ruveyde
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2019
Témata:
Unusual Presentation of More Common Disease/Injury
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6505975/
https://ncbi.nlm.nih.gov/pubmed/31015250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-229016
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