Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases (2022)
- Authors:
- Vegas, Nancy

- Demir, Zeynep
- Gordon, Christopher T.
- Breton, Sylvain
- Tavares, Vanessa Luiza Romanelli

- Moisset, Hugo
- Zechi-Ceide, Roseli Maria

- Kokitsu-Nakata, Nancy M.
- Kido, Yasuhiro
- Marlin, Sandrine
- Halem, Souad Gherbi
- Meerschaut, Ilse
- Callewaert, Bert
- Chung, Brian

- Revencu, Nicole
- Lehalle, Daphné
- Petit, Florence

- Propst, Evan J.
- Papsin, Blake C.
- Phillips, John H.
- Jakobsen, Linda
- Tanno, Pauline Le
- Thévenon, Julien
- McGaughran, Julie
- Gerkes, Erica H.
- Leoni, Chiara
- Kroisel, Peter
- Tan, Tiong Y.
- Henderson, Alex
- Terhal, Paulien
- Basel-Salmon, Lina
- Alkindy, Adila
- White, Susan M.
- Passos-Bueno, Maria Rita

- Pingault, Véronique
- Pontual, Loïc De
- Amiel, Jeanne
- Vegas, Nancy
- USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRAC ; NAKATA, NANCY MIZUE KOKITSU - HRAC ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; TAVARES, VANESSA LUIZA ROMANELLI - IB
- Unidades: HRAC; IB
- DOI: 10.1002/humu.24349
- Subjects: DOENÇAS MUSCULOSQUELÉTICAS; ANORMALIDADES CRANIOFACIAIS; GENÉTICA
- Language: Inglês
- Imprenta:
- Source:
- Título: Human Mutation
- ISSN: 1098-1004
- Volume/Número/Paginação/Ano: v. 43, n. 5, p. 582-594, 2022
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
VEGAS, Nancy et al. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Human Mutation, v. 43, n. 5, p. 582-594, 2022Tradução . . Disponível em: https://doi.org/10.1002/humu.24349. Acesso em: 13 fev. 2026. -
APA
Vegas, N., Demir, Z., Gordon, C. T., Breton, S., Tavares, V. L. R., Moisset, H., et al. (2022). Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Human Mutation, 43( 5), 582-594. doi:10.1002/humu.24349 -
NLM
Vegas N, Demir Z, Gordon CT, Breton S, Tavares VLR, Moisset H, Zechi-Ceide RM, Kokitsu-Nakata NM, Kido Y, Marlin S, Halem SG, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Tanno PL, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, Pontual LD, Amiel J. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases [Internet]. Human Mutation. 2022 ; 43( 5): 582-594.[citado 2026 fev. 13 ] Available from: https://doi.org/10.1002/humu.24349 -
Vancouver
Vegas N, Demir Z, Gordon CT, Breton S, Tavares VLR, Moisset H, Zechi-Ceide RM, Kokitsu-Nakata NM, Kido Y, Marlin S, Halem SG, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Tanno PL, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, Pontual LD, Amiel J. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases [Internet]. Human Mutation. 2022 ; 43( 5): 582-594.[citado 2026 fev. 13 ] Available from: https://doi.org/10.1002/humu.24349 - Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7
- Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes
- A review of craniofacial disorders caused by spliceosomal defects
- Auriculo-condylar syndrome: confronting a diagnostic challenge
- Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
- Identificação de novas variantes causativas e investigação da heterogeneidade clínica da Síndrome aurículo-condilar
- Identificação de mutações associadas à Síndrome Aurículo-Condilar
- A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects
- Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome
- Baraitser-Winter cerebrofrontofacial syndrome: an additional Brazilian case report
Informações sobre o DOI: 10.1002/humu.24349 (Fonte: oaDOI API)
Download do texto completo
| Tipo | Nome | Link | |
|---|---|---|---|
| 3076650.pdf |
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
