Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration
Crossref DOI link: https://doi.org/10.1186/s12881-017-0426-3
Published Online: 2017-06-02
Published Print: 2017-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Powis, Zöe http://orcid.org/0000-0002-1347-4358
Hart, Alexa
Cherny, Sara
Petrik, Igor
Palmaer, Erika
Tang, Sha
Jones, Carolyn