Clinical diagnostic exome evaluation for an infant with a...

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 reportedRBM10alteration

Zöe Powis,Alexa Hart,Sara Cherny,Igor Petrik,Erika Palmaer…
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Volume:
18
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-017-0426-3
Date:
December, 2017
File:
PDF, 623 KB
english, 2017
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