X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations

Clinical Genetics

Volumn 83, Issue 4, 2013, Pages 352-358

  Pauws, E ^a   Peskett, E ^a   Boissin, C ^a   Hoshino, A ^a   Mengrelis, K ^a   Carta, E ^a   Abruzzo, M A ^b   Lees, M ^a,c   Moore, G E ^a   Erickson, R P ^d   Stanier, P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CALIFORNIA STATE UNIVERSITY   (United States)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY OF ARIZONA   (United States)

Author keywords

CHARGE syndrome; Cleft palate; mRNA splicing; TBX22; X linked

Indexed keywords

MESSENGER RNA; T BOX TRANSCRIPTION FACTOR; TBX22 PROTEIN, HUMAN;

ANKYLOGLOSSIA; ARTICLE; CHARGE LIKE ABRUZZO ERICKSON SYNDROME; CLEFT PALATE; COLOBOMA; COMPUTER MODEL; FEMALE; GENE; GENE EXPRESSION; HUMAN; HUMAN TISSUE; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SPLICING DEFECT; SYNDROME CHARGE; TBX22 GENE; X CHROMOSOME LINKED DISORDER; CONDUCTION DEAFNESS; EXON; FACE MALFORMATION; GENETICS; LIMB MALFORMATION; MUTATION; PEDIGREE; RNA SPLICING; TONGUE DISEASE; X CHROMOSOMAL INHERITANCE;

CHARGE SYNDROME; CLEFT PALATE; EXONS; FEMALE; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HEARING LOSS, CONDUCTIVE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MAXILLOFACIAL ABNORMALITIES; MUTATION; PEDIGREE; PHENOTYPE; RNA SPLICING; T-BOX DOMAIN PROTEINS; TONGUE DISEASES;

EID: 84874987712     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01930.x     Document Type: Article

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