Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

Bibliographic Details
Main Authors: Bottillo, Irene, Castori, Marco, De Bernardo, Carmelilia, Fabbri, Romano, Grammatico, Barbara, Preziosi, Nicoletta, Scassellati, Giovanna Sforzolini, Silvestri, Evelina, Spagnuolo, Antonella, Laino, Luigi, Grammatico, Paola
Format: Online
Language:English
Published: BioMed Central 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849061/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849061/

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