KHDC3-ähnliches Protein

Caliebe A et al. (2014) A familial disorder of altered DNA-methylation.

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.

Fallahian M et al. (2013) Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.

Judson H et al. (2002) A global disorder of imprinting in the human female germ line.

Landolsi H et al. (2011) Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families.

Parry DA et al. (2011) Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Reddy R et al. (2013) Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.

Pierre A et al. (2007) Atypical structure and phylogenomic evolution of the new eutherian oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family.

Li L et al. (2008) A subcortical maternal complex essential for preimplantation mouse embryogenesis.

Zheng P et al. (2009) Role of Filia, a maternal effect gene, in maintaining euploidy during cleavage-stage mouse embryogenesis.

Zhu K et al. (2015) Identification of a human subcortical maternal complex.

NCBI article

OMIM.ORG article

Orphanet article