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Article

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.

European journal of human genetics : EJHG - 1 Jul 2018

Qian JianHua, Nguyen Ngoc Minh Phuong, Rezaei Maryam, Huang Bo, Tao YongLing, Zhang XiaoFei, Cheng Qi, Yang HanJin, Asangla Ao, Majewski Jacek, Slim Rima

Abstract excerpt

Recurrent hydatidiform moles (RHM) are aberrant human pregnancies characterized by absence of, or abnormal, embryonic development, hydropic degeneration of chorionic villi, and hyperproliferation of the trophoblast. Biallelic mutations in two maternal-effect genes, NLRP7 and KHDC3L, underlie the causation of RHM in 60% of patients. We performed exome sequencing on a patient with six pregnancy losses, two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29693651
DOI: 10.1038/s41431-018-0141-3
PMCID: PMC6018785

Genes

PADI6
NLRP7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.PMID 29693651Read ↗

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Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family.Semantic proximity Read ↗

Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic ArrestSemantic proximity Read ↗

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

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.Semantic proximity Read ↗

NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest.Semantic proximity Read ↗

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