Jennifer J Johnston Julie C Sapp Cynthia Curry Margaret Horton Eyby Leon Kristina Cusmano-Ozog William B Dobyns Louanne Hudgins Elaine Zackai Leslie G Biesecker
10.1002/ajmg.a.36212
Am J Med Genet A
2014 Jan;164A(1):120-8.
rbm10 tarp
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/24259342/
Clubfoot / diagnosis Clubfoot / genetics Heart Defects, Congenital / diagnosis Heart Defects, Congenital / genetics Mosaicism Mutation Phenotype Pierre Robin Syndrome / diagnosis Pierre Robin Syndrome / genetics
Clubfoot / diagnosis Clubfoot / genetics Heart Defects, Congenital / diagnosis Heart Defects, Congenital / genetics Mosaicism Mutation Phenotype Pierre Robin Syndrome / diagnosis Pierre Robin Syndrome / genetics Case Reports Research Support, N.I.H., Intramural Brain / pathology Chromosome Aberrations Exome Facies Fatal Outcome Female Genetic Association Studies High-Throughput Nucleotide Sequencing Humans Infant Infant, Newborn Magnetic Resonance Angiography Male TARP syndrome
PMC4443488
24259342
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism
2014