Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs
about
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.The Genetics of Nephrotic Syndrome.Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report.Nephrosis and disturbances of neuronal migration in male siblings--a new hereditary disorder?Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome.Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.Early onset nephrotic syndrome with dysmorphic facies and microcephaly.Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome.Neuropathological homology in true Galloway-Mowat syndrome.Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
P2860
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P2860
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs
description
1968 nî lūn-bûn
@nan
1968 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1968 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1968年の論文
@ja
1968年論文
@yue
1968年論文
@zh-hant
1968年論文
@zh-hk
1968年論文
@zh-mo
1968年論文
@zh-tw
1968年论文
@wuu
name
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs
@ast
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs
@en
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs
@nl
type
label
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs
@ast
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs
@en
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs
@nl
prefLabel
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs
@ast
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs
@en
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs
@nl
P2860
P3181
P356
P1476
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs
@en
P2093
W H Galloway
P2860
P304
P3181
P356
10.1136/JMG.5.4.319
P407
P577
1968-12-01T00:00:00Z