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A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive

We describe a 24-month-old male patient who presented to our Genetics-Endocrinology Clinic with a history of failure to thrive, short stature and cryptorchidism. Soon after birth he was diagnosed with 47,XYY syndrome, but due unusual facial features had further diagnostic workup which revealed Noona...

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Pubblicato in:Oxf Med Case Reports
Autori principali: Bellfield, Edward J., Shad, Zohra
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5597878/
https://ncbi.nlm.nih.gov/pubmed/28928975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/omcr/omx032
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