Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting (2011)
- Authors:
- Saadi, Irfan
- Alkuraya, Fowzan S.
- Gisselbrecht, Stephen S.
- Goessling, Wolfram
- Cavallesco, Resy
- Turbe-Doan, Annick
- Petrin, Aline L
- Harris, James
- Siddiqui, Ursela
- Grix Junior, Arthur W.
- Hove, Hanne D.
- Leboulch, Philippe
- Glover, Thomas W.
- Morton, Cynthia C
- Richieri-Costa, Antonio

- Murray, Jeffrey C
- Erickson, Robert P.
- Maas, Richard L.
- Autor USP: COSTA, ANTONIO RICHIERI DA - HRAC
- Unidade: HRAC
- DOI: 10.1016/j.ajhg.2011.05.023
- Subjects: DEFICIÊNCIA DE PROTEÍNA; ANORMALIDADES CRANIOFACIAIS; FENÓTIPOS; DISOSTOSE CRÂNIOFACIAL; FISSURA PALATINA
- Language: Inglês
- Imprenta:
- Source:
- Título: American Journal of Human Genetics
- ISSN: 0002-9297
- Volume/Número/Paginação/Ano: v. 89, p. 44-55, July 2011
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
SAADI, Irfan et al. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. American Journal of Human Genetics, v. 89, p. 44-55, 2011Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2011.05.023. Acesso em: 14 fev. 2026. -
APA
Saadi, I., Alkuraya, F. S., Gisselbrecht, S. S., Goessling, W., Cavallesco, R., Turbe-Doan, A., et al. (2011). Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. American Journal of Human Genetics, 89, 44-55. doi:10.1016/j.ajhg.2011.05.023 -
NLM
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix Junior AW, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting [Internet]. American Journal of Human Genetics. 2011 ; 89 44-55.[citado 2026 fev. 14 ] Available from: https://doi.org/10.1016/j.ajhg.2011.05.023 -
Vancouver
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix Junior AW, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting [Internet]. American Journal of Human Genetics. 2011 ; 89 44-55.[citado 2026 fev. 14 ] Available from: https://doi.org/10.1016/j.ajhg.2011.05.023 - Noonan syndrome in diverse populations
- Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?
- Ulnar ray a/hypoplasia: evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families
- Acheiropodia: report on four new Brazilian patients
- Van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures
- Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects
- Syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family [Brief clinical report]
- Turner syndrome in diverse populations
- Coloboma treatment in Treacher Collins syndrome personal contributions
- Cerebro-oculo-nasal syndrome: report of a case with a severe phenotype
Informações sobre o DOI: 10.1016/j.ajhg.2011.05.023 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
