An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

Item
http://www.wikidata.org/entity/Q34671771
A new role for wilms tumor protein 1: differential activities of + KTS and -KTS variants to regulate LHβ transcriptionGenotype/phenotype correlation in nephrotic syndrome caused by WT1 mutationsExclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias.Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.Wilms' tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndromeGonadal Function in 15 Patients Associated with WT1 Gene Mutations.Adrenocortical growth and cancer.Motifs within the CA-repeat-rich region of Surfactant Protein B (SFTPB) intron 4 differentially affect mRNA splicing.Clinical features and an atypical WT1 mutant site in a child with incomplete Denys-Drash syndrome.Frasier syndrome: four new cases with unusual presentations.Clinical and genetic findings of five patients with WT1-related disorders.
P2860

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

Item
http://www.wikidata.org/entity/Q34671771
description
2002 nî lūn-bûn
@nan
2002 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
An unusual phenotype of Frasie ...... absence of gonadal dysgenesis.
@ast
An unusual phenotype of Frasie ...... absence of gonadal dysgenesis.
@en
An unusual phenotype of Frasie ...... absence of gonadal dysgenesis.
@nl
type
label
An unusual phenotype of Frasie ...... absence of gonadal dysgenesis.
@ast
An unusual phenotype of Frasie ...... absence of gonadal dysgenesis.
@en
An unusual phenotype of Frasie ...... absence of gonadal dysgenesis.
@nl
prefLabel
An unusual phenotype of Frasie ...... absence of gonadal dysgenesis.
@ast
An unusual phenotype of Frasie ...... absence of gonadal dysgenesis.
@en
An unusual phenotype of Frasie ...... absence of gonadal dysgenesis.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
An unusual phenotype of Frasie ...... absence of gonadal dysgenesis
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698