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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Pubblicato in:BMC Med Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2020
Soggetti:
Case Report
Accesso online: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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