Recurrent hydatidiform mole type 1 is an autosomal recessive disorder caused by mutations of the NALP7 gene.
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Nguyen NM et al. (2014) Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.
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Fallahian M et al. (2013) Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.
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| 13. |
Andreasen L et al. (2012) Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.
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| 14. |
Wang CM et al. (2009) Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.
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| 15. |
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Djuric U et al. (2006) Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation.
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| 17. |
Murdoch S et al. (2006) Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.
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| 18. |
Fisher RA et al. (2002) The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles.
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OMIM.ORG article Omim 231090
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