Rekurrente Blasenmole 2

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.

OMIM.ORG article