An unusual phenotype of fraiser syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis (2002)
- Authors:
- USP affiliated authors: MENDONCA, BERENICE BILHARINHO DE - FM ; ARNHOLD, IVO J. P. - FM ; CARVALHO, FILOMENA M. - FM
- Unidade: FM
- Subjects: ENDOCRINOLOGIA; ANATOMIA PATOLÓGICA
- Language: Inglês
- Imprenta:
- Source:
- Título: The Journal of Clinical Endocrinology & Metabolism
- Volume/Número/Paginação/Ano: v. 87, n. 6, p. 2500-2505, 2002
-
ABNT
MELO, Karla F. S. et al. An unusual phenotype of fraiser syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. The Journal of Clinical Endocrinology & Metabolism, v. 87, n. 6, p. 2500-2505, 2002Tradução . . Acesso em: 29 dez. 2025. -
APA
Melo, K. F. S., Martin, R. M., Costa, E. M. F., Carvalho, F., Jorge, A. A., Arnhold, I. J. P., & Mendonça, B. B. (2002). An unusual phenotype of fraiser syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. The Journal of Clinical Endocrinology & Metabolism, 87( 6), 2500-2505. -
NLM
Melo KFS, Martin RM, Costa EMF, Carvalho F, Jorge AA, Arnhold IJP, Mendonça BB. An unusual phenotype of fraiser syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. The Journal of Clinical Endocrinology & Metabolism. 2002 ; 87( 6): 2500-2505.[citado 2025 dez. 29 ] -
Vancouver
Melo KFS, Martin RM, Costa EMF, Carvalho F, Jorge AA, Arnhold IJP, Mendonça BB. An unusual phenotype of fraiser syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. The Journal of Clinical Endocrinology & Metabolism. 2002 ; 87( 6): 2500-2505.[citado 2025 dez. 29 ] - Reavaliação na idade adulta do diagnóstico da deficiência de GH (DGH) determinado na infância
- Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocius puberty
- Missense mutation a300v in the DAX1 gene in a Brazilian male with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
- An unusual phenotype of fraiser syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis
- Mutations in the SRY, DAX1, SF1 and WNT4 genes in brazilian sex-reversed patients
- Microconversão no promotor do gene CYP21A2 envolvendo os sítios de ligação dos fatores de transcrição Sp1 e ASP: nova etiologia molecular da deficiência de 21-hidroxilase (21OHD)
- Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absense of SRY sequence in gonadal tissue
- O número de repetições CAG no exon 1 do gene do receptor androgênico não está relacionado à identidade sexual em pacientes adultos com pseudohermafroditismo masculino e transexuais masculinos
- Screening for GHR mutations in children with idiopathic short stature (ISS):: identification of two novel mutations (N103S and R368C)
- Three novel mutations in CYP21 gene in brazilian patients with the classical form of 21-hydroxylase deficiency due to founder effect
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
