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
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.
Date of publication of this fulltext: 19 Dec 2024 12:09
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| 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 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| 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 |
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