Cargando…
Infant Boy with Microcephaly Gastroesophageal Reflux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report
In this case report, we present the first diagnosed case of Galloway-Mowat syndrome in Iran. A 7 month old infant boy with microcephaly that had prominently stunted head growth after birth, gastroesophageal reflux, multiple craniofascial characters, hypothyroidism and nephrotic syndrome diagnosed at...
Autores principales: | Malaki, Majid, Rafeey, Mandana |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Iranian Association of Gastroerterology and Hepatology
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4017694/ https://www.ncbi.nlm.nih.gov/pubmed/24829636 |
Ejemplares similares
-
Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome
por: Zeybek, Cengiz, et al.
Publicado: (2016) -
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
por: Lin, Pei-Yi, et al.
Publicado: (2018) -
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings
por: Al-Rakan, Maha A., et al.
Publicado: (2018) -
Novel TP53RK variants cause varied clinical features of Galloway–Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients
por: Chen, Jing, et al.
Publicado: (2023) -
Disruption of pathways regulated by Integrator complex in Galloway–Mowat syndrome due to WDR73 mutations
por: Tilley, F. C., et al.
Publicado: (2021)