A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

American Journal of Medical Genetics, Part A

Volumn 167, Issue 1, 2015, Pages 164-168

  Pons, Linda ^a   Cordier, Marie Pierre ^a   Labalme, Audrey ^a   Till, Marianne ^a   Louvrier, Camille ^a   Schluth Bolard, Caroline ^a,b,c   Lesca, Gaetan ^a,b,c   Edery, Patrick ^a,b,c   Sanlaville, Damien ^a,b,c  

^a HOSPICES CIVILS DE LYON   (France)

^b UNIVERSITÉ LYON 1   (France)

^c LYON NEUROSCIENCE RESEARCH CENTER   (France)

Author keywords

3q26 deletion; Array comparative genomic hybridization; Intellectual disability; TBL1XR1

Indexed keywords

ADULT; ANTEVERTED NOSTRIL; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 3Q; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; CROWDING (TOOTH); FACE DYSMORPHIA; FEMALE; GENE; HUMAN; HUMAN CELL; HYPOTELORISM; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; LONG PHILTRUM; LOW SET EAR; OTITIS; PRIORITY JOURNAL; PROGNATHIA; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SHORT NOSE; SPEECH DELAY; SPEECH THERAPY; SYNDACTYLY; TBL1XR1 GENE; CHROMOSOME 3; CHROMOSOME DELETION; FACIES; GENETICS; INFANT; NEWBORN; PREGNANCY; PRESCHOOL CHILD; SYNDROME;

CELL RECEPTOR; NUCLEAR PROTEIN; REPRESSOR PROTEIN; TBL1XR1 PROTEIN, HUMAN;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; NUCLEAR PROTEINS; PREGNANCY; RECEPTORS, CYTOPLASMIC AND NUCLEAR; REPRESSOR PROTEINS; SYNDROME;

EID: 84919608842     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36759     Document Type: Article

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