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Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature

BACKGROUND: Pierson syndrome (PS) is a rare autosomal recessive disorder, characterized by congenital nephrotic syndrome and microcoria. Advances in renal replacement therapies have extended the lifespan of patients, whereas the full clinical spectrum of PS in infancy and beyond remains elusive. CAS...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Nishiyama, Kei, Kurokawa, Mari, Torio, Michiko, Sakai, Yasunari, Arima, Mitsuru, Tsukamoto, Shoko, Obata, Satoshi, Minamikawa, Shogo, Nozu, Kandai, Kaku, Noriyuki, Maehara, Yoshihiko, Sonoda, Koh-Hei, Taguchi, Tomoaki, Ohga, Shouichi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7160948/
https://ncbi.nlm.nih.gov/pubmed/32295525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01019-9
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