Literature DB >> 21233460

Neuropathological homology in true Galloway-Mowat syndrome.

Julia Keith1, Victoria A Fabian, Peter Walsh, Raja Sinniah, Yves Robitaille.   

Abstract

Galloway-Mowat syndrome is a rare condition that is likely hereditary though the underlying offending gene has not been identified, and is characterized by microcephaly and severe nephrotic syndrome culminating in childhood death. Some of the reported cases have abnormalities in neuronal migration and intractable seizures, but many of the described cases focus on the renal pathology and emphasize a diversity of clinical and pathological features. The case described herein includes a thorough neuropathological description, and when the neuroradiology and neuropathology of the previously published cases is scrutinized, a fairly consistent clinical and neuropathological phenotype emerges.

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Year:  2011        PMID: 21233460     DOI: 10.1177/0883073810383982

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  4 in total

Review 1.  Expansion of phenotype and genotypic data in CRB2-related syndrome.

Authors:  Ryan E Lamont; Wen-Hann Tan; A Micheil Innes; Jillian S Parboosingh; Dina Schneidman-Duhovny; Aleksandar Rajkovic; John Pappas; Pablo Altschwager; Stephanie DeWard; Anne Fulton; Kathryn J Gray; Max Krall; Lakshmi Mehta; Lance H Rodan; Devereux N Saller; Deanna Steele; Deborah Stein; Svetlana A Yatsenko; François P Bernier; Anne M Slavotinek
Journal:  Eur J Hum Genet       Date:  2016-03-23       Impact factor: 4.246

2.  Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Authors:  Robert N Jinks; Erik G Puffenberger; Emma Baple; Brian Harding; Peter Crino; Agnes B Fogo; Olivia Wenger; Baozhong Xin; Alanna E Koehler; Madeleine H McGlincy; Margaret M Provencher; Jeffrey D Smith; Linh Tran; Saeed Al Turki; Barry A Chioza; Harold Cross; Gaurav V Harlalka; Matthew E Hurles; Reza Maroofian; Adam D Heaps; Mary C Morton; Lisa Stempak; Friedhelm Hildebrandt; Carolin E Sadowski; Joshua Zaritsky; Kenneth Campellone; D Holmes Morton; Heng Wang; Andrew Crosby; Kevin A Strauss
Journal:  Brain       Date:  2015-06-11       Impact factor: 13.501

3.  Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.

Authors:  Cengiz Zeybek; Gokalp Basbozkurt; Salih Hamcan; Ayhan Ozcan; Davut Gul; Faysal Gok
Journal:  Case Rep Nephrol       Date:  2016-06-14

4.  Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.

Authors:  Pei-Yi Lin; Min-Hua Tseng; Martin Zenker; Jia Rao; Friedhelm Hildebrandt; Shih-Hua Lin; Chun-Chen Lin; Jui-Hsing Chang; Chyong-Hsin Hsu; Ming-Dar Lee; Shuan-Pei Lin; Jeng-Daw Tsai
Journal:  Orphanet J Rare Dis       Date:  2018-12-17       Impact factor: 4.123

  4 in total

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