A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report-Reference-Cited by-同舟云学术

A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report

Published:2018-07-27 Issue:1 Volume:19 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Hyun Hye Sun,Kim Seong Heon,Park Eujin,Cho Myung Hyun,Kang Hee Gyung,Lee Hyun Soon,Miyake Noriko,Matsumoto Naomichi,Tsukaguchi Hiroyasu,Cheong Hae Il^ORCID

Funder

Ministry of Health & Welfare, Republic of Korea

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0649-y.pdf

Reference23 articles.

1. Galloway WH, Mowat AP. Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. J Med Genet. 1968;5(4):319–21.

2. Cohen AH, Turner MC. Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology. Kidney Int. 1994;45(5):1407–15.

3. Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, et al. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. Am J Hum Genet. 2014;95(6):637–48.

4. Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, et al. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. J Med Genet. 2015;52(6):381–90.

5. Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, et al. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. 2015;138(Pt8):2173–90.

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1. Two non-familial cases of Galloway-Mowat syndrome carrying the homozygous mutations of WDR73 and TP53RK;Scientia Medica;2023-10-17

2. The hereditary nephrotic syndrome in children: features of clinical phenotype and genotype, pathogenesis, renal prognosis of isolated and syndromic forms;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2023-04-26

3. Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway–Mowat syndrome in Iran;CEN Case Reports;2023-03-01

4. Novel TP53RK variants cause varied clinical features of Galloway–Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients;Frontiers in Molecular Neuroscience;2023-02-16

5. Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3;BMC Nephrology;2023-02-08