Publication

Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG, Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet36(4):411-6 2004
PubMed ID: 15004558

Records Return:  (2) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM10283Male15 YR3197probandHYPERGLYCEROLEMIA
GM07947Male14 YR probandMUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD