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. [electronic resource]

By: Contributor(s): Producer: 20170803Description: 60 p. digitalISSN:
  • 1471-2350
Subject(s): Online resources: In: BMC medical genetics vol. 18
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Publication Type: Case Reports; Journal Article

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