Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Genetics in Medicine

Volumn 11, Issue 4, 2009, Pages 241-247

  Ferreira de Lima, Renata L L ^a   Hoper, Sarah A ^b   Ghassibe, Michella ^c   Cooper, Margaret E ^d   Rorick, Nicholas K ^b   Kondo, Shinji ^b   Katz, Lori ^b   Marazita, Mary L ^d   Compton, John ^e   Bale, Sherri ^e   Hehr, Ute ^f   Dixon, Michael J ^g   Daack Hirsch, Sandra ^b   Boute, Odile ^h   Bayet, Bénédicte ⁱ   Revencu, Nicole ^c,i   Verellen Dumoulin, Christine ⁱ   Vikkula, Miikka ^c   Richieri Costa, Antônio ^j   Moretti Ferreira, Danilo ^a   Murray, Jeffrey C ^b   Schutte, Brian C ^b   more..

^a SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

^b UNIVERSITY OF IOWA   (United States)

^c DE DUVE INSTITUTE   (Belgium)

^d UNIVERSITY OF PITTSBURGH   (United States)

^e GENEDX   (United States)

^f UNIVERSITY OF REGENSBURG   (Germany)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h LILLE UNIVERSITY HOSPITAL   (France)

ⁱ CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^j UNIVERSITY OF SÃO PAULO   (Brazil)

more..

Author keywords

Cleft lip and palate; CpG; Cryptic splice site; Dominant negative; Haploinsufficiency; Mutation

Indexed keywords

INTERFERON REGULATORY FACTOR; IRF6 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; BINDING SITE; CLEFT LIP; CLEFT PALATE; EXON; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETICS; HUMAN; LEG MALFORMATION; MALE; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BINDING SITES; CLEFT LIP; CLEFT PALATE; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GENE FREQUENCY; HUMANS; INTERFERON REGULATORY FACTORS; LOWER EXTREMITY DEFORMITIES, CONGENITAL; MALE; MOLECULAR SEQUENCE DATA; MUTATION; SYNDROME;

EID: 70349131331     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318197a49a     Document Type: Article

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