A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX

European Journal of Medical Genetics

Volumn 57, Issue 10, 2014, Pages 587-595

  Ansari, Morad ^a   Rainger, Jacqueline K ^a   Murray, Jennie E ^a,b   Hanson, Isabel ^a   Firth, Helen V ^c   Mehendale, Felicity ^d   Amiel, Jeanne ^e   Gordon, Christopher T ^e   Percesepe, Antonio ^f   Mazzanti, Laura ^g   Fryer, Alan ^h   Ferrari, Paola ^f   Devriendt, Koenraad ⁱ   Temple, I Karen ^j   FitzPatrick, David R ^a,b  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^e IMAGINE INSTITUTE   (France)

^f UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^g UNIVERSITY OF BOLOGNA   (Italy)

^h ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

^j UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

more..

Author keywords

5q deletion; Congenital contractural arachnodactyly; Fibrillin 2 (FBN2); Phosphorylated adaptor for RNA export (PHAX); Pierre Robin sequence; Talipes equinovarus

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 5Q; CLEFT PALATE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTRACTURE; EAR MALFORMATION; FBN2 GENE; FEMALE; GENE; GENE DELETION; GENE MUTATION; HAPLOINSUFFICIENCY; HUMAN; INFANT; MALE; NUCLEOTIDE SEQUENCE; PES EQUINOVARUS; PHAX GENE; PHENOTYPE; PIERRE ROBIN SYNDROME; TELOMERE; ADOLESCENT; CASE REPORT; CHROMOSOME 5; CLUBFOOT; COMPLICATION; CONGENITAL MALFORMATION; EXTERNAL EAR; FINGER; GENETICS; MISSENSE MUTATION; SYNDROME; YOUNG ADULT;

ACTIN BINDING PROTEIN; FIBRILLIN; NUCLEOCYTOPLASMIC TRANSPORT PROTEIN; PHAX PROTEIN, HUMAN; PHOSPHOPROTEIN;

ADOLESCENT; CHILD; CHROMOSOMES, HUMAN, PAIR 5; CLEFT PALATE; CLUBFOOT; CONTRACTURE; EAR, EXTERNAL; FEMALE; FINGERS; GENE DELETION; HAPLOINSUFFICIENCY; HUMANS; MALE; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS; PHENOTYPE; PHOSPHOPROTEINS; PIERRE ROBIN SYNDROME; SEQUENCE DELETION; SYNDROME; YOUNG ADULT;

EID: 84908210018     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.08.007     Document Type: Article

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