Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes (2013)
- Authors:
- Twigg, Stephen R. F.
- Babbs, Christian
- Elzen, Marijke E. P. van den
- Goriely, Anne
- Taylor, Stephen
- McGowan, Simon J.
- Giannoulatou, Eleni
- Lonie, Lorne
- Ragoussis, Jiannis
- Akha, Elham Sadighi
- Knight, Samantha J. L.
- Zechi-Ceide, Roseli Maria
- Hoogeboom, Jeannette A. M.
- Pober, Barbara R.
- Toriello, Helga V.
- Wall, Steven A.
- Passos-Bueno, Maria Rita
- Brunner, Han G.
- Mathijssen, Irene M. J.
- Wilkie, Andrew O. M.
- USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRAC ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidades: HRAC; IB
- DOI: 10.1093/hmg/ddt015
- Subjects: GENÉTICA; ANORMALIDADES MÚLTIPLAS; MUTAÇÃO
- Language: Inglês
- Imprenta:
- Source:
- Título: Human Molecular Genetics
- ISSN: 0964-6906
- Volume/Número/Paginação/Ano: v. 22, n. 8, p. 1654-1662, Apr. 2013
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
TWIGG, Stephen R. F. et al. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Human Molecular Genetics, v. 22, n. 8, p. 1654-1662, 2013Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddt015. Acesso em: 12 fev. 2026. -
APA
Twigg, S. R. F., Babbs, C., Elzen, M. E. P. van den, Goriely, A., Taylor, S., McGowan, S. J., et al. (2013). Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Human Molecular Genetics, 22( 8), 1654-1662. doi:10.1093/hmg/ddt015 -
NLM
Twigg SRF, Babbs C, Elzen MEP van den, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Akha ES, Knight SJL, Zechi-Ceide RM, Hoogeboom JAM, Pober BR, Toriello HV, Wall SA, Passos-Bueno MR, Brunner HG, Mathijssen IMJ, Wilkie AOM. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes [Internet]. Human Molecular Genetics. 2013 ; 22( 8): 1654-1662.[citado 2026 fev. 12 ] Available from: https://doi.org/10.1093/hmg/ddt015 -
Vancouver
Twigg SRF, Babbs C, Elzen MEP van den, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Akha ES, Knight SJL, Zechi-Ceide RM, Hoogeboom JAM, Pober BR, Toriello HV, Wall SA, Passos-Bueno MR, Brunner HG, Mathijssen IMJ, Wilkie AOM. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes [Internet]. Human Molecular Genetics. 2013 ; 22( 8): 1654-1662.[citado 2026 fev. 12 ] Available from: https://doi.org/10.1093/hmg/ddt015 - A review of craniofacial disorders caused by spliceosomal defects
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Informações sobre o DOI: 10.1093/hmg/ddt015 (Fonte: oaDOI API)
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