Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 120-128

  Johnston, Jennifer J ^a   Sapp, Julie C ^a   Curry, Cynthia ^b   Horton, Margaret ^c   Leon, Eyby ^d   Cusmano Ozog, Kristina ^e,h   Dobyns, William B ^f,g   Hudgins, Louanne ^e   Zackai, Elaine ^c   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^e STANFORD UNIVERSITY   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

^g SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^h CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

RBM10; TARP

Indexed keywords

TRANSCRIPTION FACTOR GLI3;

AMNIOCENTESIS; ARTICLE; CHROMOSOME ANALYSIS; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; DANDY WALKER SYNDROME; DNA SEQUENCE; FALLOT TETRALOGY; FETUS; FUNNEL CHEST; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GLI3 GENE; HEART ATRIUM ENLARGEMENT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; MALE; MICROGNATHIA; MOSAICISM; MUTATOR GENE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERICARDIAL EFFUSION; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SYNDACTYLY; TARP SYNDROME; X CHROMOSOME LINKED DISORDER; BRAIN; CASE REPORT; CHROMOSOME ABERRATION; CLUBFOOT; EXOME; FACIES; FATALITY; FEMALE; GENETICS; HEART DEFECTS, CONGENITAL; HIGH THROUGHPUT SEQUENCING; MAGNETIC RESONANCE ANGIOGRAPHY; MUTATION; NEWBORN; PATHOLOGY; PIERRE ROBIN SYNDROME;

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;

EID: 84890597273     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36212     Document Type: Article

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