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

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

Abstract 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 elus...

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Main Authors: Kei Nishiyama, Mari Kurokawa, Michiko Torio, Yasunari Sakai, Mitsuru Arima, Shoko Tsukamoto, Satoshi Obata, Shogo Minamikawa, Kandai Nozu, Noriyuki Kaku, Yoshihiko Maehara, Koh-Hei Sonoda, Tomoaki Taguchi, Shouichi Ohga
Format: Article
Language:English
Published: BMC 2020-04-01
Series:BMC Medical Genetics
Subjects:
Pierson syndrome
The laminin β2 gene (LAMB2)
Microcoria
Neurological signs, intestinal malrotation
Autonomic dysfunction
Online Access:http://link.springer.com/article/10.1186/s12881-020-01019-9

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http://link.springer.com/article/10.1186/s12881-020-01019-9

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