Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling (2018)
- Authors:
- Roessler, Erich
- Hu, Ping
- Marino, Juliana
- Hong, Sungkook
- Hart, Rachel
- Berger, Seth
- Martinez, Ariel
- Abe, Yu
- Kruszka, Paul
- Thomas, James W
- Mullikin, James C
- NISC Comparative Sequencing Program
- Wang, Yupeng
- Wong, Wendy S. W
- Niederhuber, John E
- Solomon, Benjamin D
- Richieri-Costa, Antonio
- Bicudo, Lucilene Arilho Ribeiro
- Muenke, Maximilian
- Autor USP: COSTA, ANTONIO RICHIERI DA - HRAC
- Unidade: HRAC
- DOI: 10.1002/humu.23590
- Subjects: HOLOPROSENCEFALIA; MALFORMAÇÕES; MUTAÇÃO GENÉTICA
- Language: Inglês
- Imprenta:
- Source:
- Título: Human Mutation
- Volume/Número/Paginação/Ano: v. 39, n. 10, p. 1416-1427, 2018
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
ROESSLER, Erich et al. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling. Human Mutation, v. 39, n. 10, p. 1416-1427, 2018Tradução . . Disponível em: https://doi.org/10.1002/humu.23590. Acesso em: 24 fev. 2026. -
APA
Roessler, E., Hu, P., Marino, J., Hong, S., Hart, R., Berger, S., et al. (2018). Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling. Human Mutation, 39( 10), 1416-1427. doi:10.1002/humu.23590 -
NLM
Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, Martinez A, Abe Y, Kruszka P, Thomas JW, Mullikin JC, NISC Comparative Sequencing Program, Wang Y, Wong WSW, Niederhuber JE, Solomon BD, Richieri-Costa A, Bicudo LAR, Muenke M. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling [Internet]. Human Mutation. 2018 ; 39( 10): 1416-1427.[citado 2026 fev. 24 ] Available from: https://doi.org/10.1002/humu.23590 -
Vancouver
Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, Martinez A, Abe Y, Kruszka P, Thomas JW, Mullikin JC, NISC Comparative Sequencing Program, Wang Y, Wong WSW, Niederhuber JE, Solomon BD, Richieri-Costa A, Bicudo LAR, Muenke M. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling [Internet]. Human Mutation. 2018 ; 39( 10): 1416-1427.[citado 2026 fev. 24 ] Available from: https://doi.org/10.1002/humu.23590 - 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: 10.1002/humu.23590 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
