de Lima, Renata L. L. Ferreira ; Hoper, Sarah A. ; Ghassibe, Michella ; Cooper, Margaret E. ; Rorick, Nicholas K. ; Kondo, Shinji ; Katz, Lori ; Marazita, Mary L. ; Compton, John ; Bale, Sherri ; Hehr, Ute ; Dixon, Michael J. ; Daack-Hirsch, Sandra 
; Boute, Odile ; Bayet, Bénédicte ; Revencu, Nicole ; Verellen-Dumoulin, Christine ; Vikkula, Miikka ; Richieri-Costa, Antônio ; Moretti-Ferreira, Danilo ; Murray, Jeffrey C. ; Schutte, Brian C.
; Boute, Odile ; Bayet, Bénédicte ; Revencu, Nicole ; Verellen-Dumoulin, Christine ; Vikkula, Miikka ; Richieri-Costa, Antônio ; Moretti-Ferreira, Danilo ; Murray, Jeffrey C. ; Schutte, Brian C. 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
Article
de Lima, Renata L. L. Ferreira, Hoper, Sarah A., Ghassibe, Michella, Cooper, Margaret E., Rorick, Nicholas K., Kondo, Shinji, Katz, Lori, Marazita, Mary L., Compton, John, Bale, Sherri, Hehr, Ute, Dixon, Michael J., Daack-Hirsch, Sandra, Boute, Odile, Bayet, Bénédicte, Revencu, Nicole, Verellen-Dumoulin, Christine, Vikkula, Miikka , Richieri-Costa, Antônio, Moretti-Ferreira, Danilo , Murray, Jeffrey C. and Schutte, Brian C.
(2009)
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 11 (4), pp. 241-247.
Alternative links to fulltext
Involved Institutions
Details
| Item type | Article | ||||
| Journal or Publication Title | Genetics in Medicine | ||||
| Publisher | NATURE PUBLISHING GROUP | ||||
| Place of Publication | NEW YORK | ||||
| Volume | 11 | ||||
| Number of Issue or Book Chapter | 4 | ||||
| Page Range | pp. 241-247 | ||||
| Date | 2009 | ||||
| Date of publication | 19 Dec 2024 12:09 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
| ||||
| Keywords | NONSYNDROMIC CLEFT-LIP; 2 MISSENSE MUTATIONS; IRF6 GENE VARIANTS; PALATE; IDENTIFICATION; LINKAGE; LOCUS; POPULATION; 1Q32-Q41; DELETION; cleft lip and palate; mutation; haploinsufficiency; dominant negative; cryptic splice site; CpG | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 67267 |
Export bibliographical data
Owner only: item control page
Altmetric
Altmetric