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Article

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis.

European journal of medical genetics - 1 Dec 2012

Machado Aline Zamboni, da Silva Thatiana Evilen, Frade Costa Elaine Maria, Dos Santos Mariza Gerdulo, Nishi Mirian Yumie, Brito Vinicius Nahime, Mendonca Berenice Bilharinho, Domenice Sorahia

Abstract excerpt

Despite advances in our understanding of the mechanisms involved in sex determination and differentiation, the specific roles of many genes in these processes are not completely understood in humans. Both DMRT1 and FGF9 are among this group of genes. Dmrt1 controls germ cell differentiation, prol...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22939835
DOI: 10.1016/j.ejmg.2012.07.012

Genes

DMRT1
FGF9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22939835-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis.PMID 22939835Read ↗

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