Phenotypic and mutational spectrum of ROR2-related Robinow syndrome (2022)
- Authors:
- Lima, Ariadne R.
- Ferreira, Barbara M.
- Zhang, Chaofan
- Jolly, Angad
- Du, Haowei
- White, Janson J.
- Dawood, Moez
- Lins, Tulio C.
- Chiabai, Marcela A.
- van Beusekom, Ellen
- Cordoba, Mara S.
- Rosa, Erica C. C. Caldas
- Kayserili, Hulya
- Kimonis, Virginia
- Wu, Erica
- Mellado, Cecilia
- Aggarwal, Vineet
- Richieri-Costa, Antonio
- Brunoni, Décio
- Canó, Talyta M.
- Jorge, Alexander A. L.
- Kim, Chong Ae
- Honjo, Rachel
- Bertola, Débora R.
- Dandalo-Girardi, Raissa M.
- Bayram, Yavuz
- Gezdirici, Alper
- Yilmaz-Gulec, Elif
- Gumus, Evren
- Yilmaz, Gülay C.
- Okamoto, Nobuhiko
- Ohashi, Hirofumi
- Coban–Akdemir, Zeynep
- Mitani, Tadahiro
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Regattieri, Neysa A. P.
- Pogue, Robert
- Pereira, Rinaldo W.
- Otto, Paulo A
- Gibbs, Richard A.
- Ali, Bassam R.
- van Bokhoven, Hans
- Brunner, Han G.
- Sutton, V. Reid
- Lupski, James R.
- Vianna-Morgante, Angela M
- Carvalho, Claudia M. B.
- Mazzeu, Juliana F.
- USP affiliated authors: COSTA, ANTONIO RICHIERI DA - HRAC ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; KIM, CHONG AE - FM ; BERTOLA, DÉBORA ROMEO - IB ; OTTO, PAULO ALBERTO - IB ; MORGANTE, ANGELA MARIA VIANNA - IB ; GIRARDI, RAÍSSA MODAFFORE DANDALO - IB
- Unidades: HRAC; FM; IB
- DOI: 10.1002/humu.24375
- Subjects: FENÓTIPOS; MORFOLOGIA (ANATOMIA); SEQUENCIAMENTO GENÉTICO
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Human Mutation
- ISSN: 1098-1004
- Volume/Número/Paginação/Ano: v. 43, n. 7, p. 900-918, July 2022
- Este periódico é de acesso aberto
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: green
-
ABNT
LIMA, Ariadne R. et al. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, v. 43, n. 7, p. 900-918, 2022Tradução . . Disponível em: https://doi.org/10.1002/humu.24375. Acesso em: 23 maio 2024. -
APA
Lima, A. R., Ferreira, B. M., Zhang, C., Jolly, A., Du, H., White, J. J., et al. (2022). Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, 43( 7), 900-918. doi:10.1002/humu.24375 -
NLM
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2024 maio 23 ] Available from: https://doi.org/10.1002/humu.24375 -
Vancouver
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2024 maio 23 ] Available from: https://doi.org/10.1002/humu.24375 - The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
- Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome
- Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia
- Displasias esqueléticas
- Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
- Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing
- Genetic investigation of patients with tall stature
- Impact of growth hormone therapy on adult height in patients with PTPN11 mutations related to Noonan Syndrome
- Targeted massively parallel sequencing for congenital generalized lipodystrophy
- New insight in mucopolysaccharidosis type VI: Neurological perspective
Informações sobre o DOI: 10.1002/humu.24375 (Fonte: oaDOI API)
Download do texto completo
Tipo | Nome | Link | |
---|---|---|---|
3102310.pdf |
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas