Publication

Jin B, Tao Q, Peng J, Soo HM, Wu W, Ying J, Fields CR, Delmas AL, Liu X, Qiu J, Robertson KD, DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function Human molecular genetics17:690-709 2007
PubMed ID: 18029387

Records Return:  (3) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM08728Female26 YR2081motherIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
GM08714Female1 YR2081probandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
GM08729Male30 YR2081fatherIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME