Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.
about
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.Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report.Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.Early onset nephrotic syndrome with dysmorphic facies and microcephaly.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
Q34657855-8C39D20D-5584-42E1-992D-B943708F5914Q35880740-060BA924-CEB5-401C-993F-D1BED8BDC4D9Q39498001-1907FF78-ECEA-49F1-A33E-67F3B9DEEBCAQ41923539-48C48358-E96F-41C5-A434-2BC4DC5FD687Q41927547-35990929-5DC2-450B-9EDB-8A629AF04CC2Q52144547-5C01C66C-B399-4D8A-862B-FE548E8FACD3Q55497336-A38D6DEF-3F78-4795-9F4F-1FC4340CA706
P2860
Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
1999年论文
@zh
1999年论文
@zh-cn
name
Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.
@en
type
label
Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.
@en
prefLabel
Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.
@en
P2093
P1476
Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.
@en
P2093
P304
P356
10.1002/(SICI)1096-8628(19990129)82:3<257::AID-AJMG12>3.3.CO;2-Z
P577
1999-01-01T00:00:00Z