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Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
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Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am J Med Genet A. 2014 Jan; 164A(1):120-8.
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PubMed
subject areas
Brain
Chromosome Aberrations
Clubfoot
Exome
Facies
Fatal Outcome
Female
Genetic Association Studies
Heart Defects, Congenital
High-Throughput Nucleotide Sequencing
Humans
Infant
Infant, Newborn
Magnetic Resonance Angiography
Male
Mosaicism
Mutation
Phenotype
Pierre Robin Syndrome
authors with profiles
William B. Dobyns