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 (2009)
- Authors:
- Lima, Renata Lúcia Leite Ferreira de
- 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, Antonio
- Moretti Ferreira, Danilo
- Murray, Jeffrey C.
- Schutte, Brian C.
- USP affiliated authors: COSTA, ANTONIO RICHIERI DA - HRAC
- Unidades: HRAC
- DOI: 10.1097/GIM.0b013e318197a49a
- Subjects: ANÁLISE DE SEQUÊNCIA DE DNA; MUTAÇÃO; LÁBIO FISSURADO; FISSURA PALATINA
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Genetics in Medicine
- ISSN: 1098-3600
- Volume/Número/Paginação/Ano: v. 11, n. 4, p. 241-247, Apr. 2009
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
LIMA, Renata Lúcia Leite Ferreira de; HOPER, Sarah A.; GHASSIBE, Michella; et al. 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, Maryland, v. 11, n. 4, p. 241-247, 2009. Disponível em: < http://dx.doi.org/10.1097/GIM.0b013e318197a49a > DOI: 10.1097/GIM.0b013e318197a49a. -
APA
Lima, R. L. L. F. de, Hoper, S. A., Ghassibe, M., Cooper, M. E., Rorick, N. K., Kondo, S., et al. (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), 241-247. doi:10.1097/GIM.0b013e318197a49a -
NLM
Lima RLLF de, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti Ferreira D, Murray JC, Schutte BC. 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 [Internet]. Genetics in Medicine. 2009 ; 11( 4): 241-247.Available from: http://dx.doi.org/10.1097/GIM.0b013e318197a49a -
Vancouver
Lima RLLF de, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti Ferreira D, Murray JC, Schutte BC. 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 [Internet]. Genetics in Medicine. 2009 ; 11( 4): 241-247.Available from: http://dx.doi.org/10.1097/GIM.0b013e318197a49a - Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and cleft lip and palate. Report of two Brazilian families
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Informações sobre o DOI: 10.1097/GIM.0b013e318197a49a (Fonte: oaDOI API)
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