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Article

No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.

Prenatal diagnosis - 1 Dec 2013

Mahadevan Sangeetha, Wen Shu, Balasa Alfred, Fruhman Gary, Mateus Julio, Wagner Andrew, Al-Hussaini Tarek, Van den Veyver Ignatia B

Abstract excerpt

OBJECTIVE: The objective of this study was to evaluate the mutational spectrum of NLRP7 and KHDC3L (C6orf221) in women with sporadic and recurrent androgenetic complete hydatidiform moles (AnCHM) and biparental hydatidiform moles (BiHM) to address the hypothesis that autosomal recessive mutations in these genes are only or primarily associated with BiHM. METHOD: We recruited 16 women with suspected recurrent and...

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Identifiers

PMID: 24105752
DOI: 10.1002/pd.4239
PMCID: PMC3951116

Genes

NLRP7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.PMID 24105752Read ↗

Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles.Semantic proximity Read ↗

NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.Semantic proximity Read ↗

Genetic screening of Chinese patients with hydatidiform mole by whole-exome sequencing and comprehensive analysis.Semantic proximity Read ↗

Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.Semantic proximity Read ↗

[Analysis of three Chinese pedigrees affected with recurrent hydatidiform mole due to variants of NLRP7 gene].Semantic proximity Read ↗

The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes.Semantic proximity Read ↗

Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage.Semantic proximity Read ↗

Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.Semantic proximity Read ↗

Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform moleSemantic proximity Read ↗

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.Semantic proximity Read ↗

A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.Semantic proximity Read ↗

Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.Semantic proximity Read ↗

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