Familial focal segmental glomerulosclerosis with PLCE1 mutation in siblings

Pediatr Int. 2019 Jul;61(7):726-727. doi: 10.1111/ped.13870.

Authors

Masaki Shimizu¹, Hitoshi Irabu¹, Hisashi Kaneda², Kazuhide Ohta³, Kandai Nozu⁴

Affiliations

¹ Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Ishikawa, Japan.
² Department of Pediatrics, Kanazawa Medical Center, Kanazawa, Ishikawa, Japan.
³ Department of Pediatrics, Komatsu Municipal Hospital, Komatsu, Ishikawa, Japan.
⁴ Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan.

PMID: 31359539
DOI: 10.1111/ped.13870

No abstract available

Keywords: PLCE1; focal segmental glomerulosclerosis.

Publication types

Case Reports

MeSH terms

Female
Genetic Markers
Glomerulosclerosis, Focal Segmental / diagnosis
Glomerulosclerosis, Focal Segmental / genetics*
Humans
Infant
Japan
Male
Mutation*
Phosphoinositide Phospholipase C / genetics*
Siblings*

Substances

Genetic Markers
Phosphoinositide Phospholipase C
phospholipase C epsilon

Associated data

GENBANK/NM_016341.3