Comparative genomic hybridization of human patient reveals association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

ABSTRACT: Array-Comparative Genomic Hybridization (CGH) was performed using a whole-genome microarray with a resolution of about 75 Kb on a man showing unilateral congenital transverse defect of his right upper (absence of forearm and hand) and right lower (absence of foot) limbs. He had also a high platelet count.

ORGANISM(S): Homo sapiens

DISEASE(S): unilateral congenital transverse defect of his right upper (absence of forearm and hand) and right lower (absence of foot) limbs; a high platelet count

SUBMITTER: Pamela Magini 

PROVIDER: E-MEXP-2214 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress