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Article

[Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome].

Anales espanoles de pediatria - 1 Apr 2002

Soriano Guillén L, Muñoz Calvo M T, Martinez Pérez J, Pozo Román J, Martín Sobrino M A, González Medeiro I, Argente Oliver J

Abstract excerpt

BACKGROUND: Androgen insensitivity syndrome is an X-linked disorder of male sexual differentiation caused by mutations in the androgen receptor gene and resulting in a wide range of phenotypes. OBJECTIVE: To study the androgen receptor gene in two cousins with androgen insensitivity syndrome. PATIENTS AND METHODS: We present two patients who attended our clinic for primary amenorrhea. The phenotype and external...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Leydig Cells

Share to Polymorphism, Single-Stranded Conformational

Share to Receptors, Androgen

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Source

Identifiers

PMID: 11927080

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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