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Johanson-Blizzard syndrome with associated urogenital anomalies

We present a case of a child with pancreatic insufficiency and facial defects typical of Johanson-Blizzard syndrome (JBS), along with the more facultative anomalies of the JBS, such as those of the urogenital system including persistent urogenital sinus, urethral duplication and dysplastic kidneys....

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Sood, Akshay, Jamzadeh, Asha, Chowdhury, Mashrin, Lakshmanan, Yegappan
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6088298/
https://ncbi.nlm.nih.gov/pubmed/30097546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-225336
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