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
- USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRACF ; NAKATA, NANCY MIZUE KOKITSU - HRAC ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; TAVARES, VANESSA LUIZA ROMANELLI - IB
- Unidades: HRACF; HRAC; IB
- DOI: 10.1002/humu.24349
- Subjects: DOENÇAS MUSCULOSQUELÉTICAS; ANORMALIDADES CRANIOFACIAIS; GENÉTICA
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: 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 é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: gold
-
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: 28 mar. 2024. -
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 2024 mar. 28 ] 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 2024 mar. 28 ] 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
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Informações sobre o DOI: 10.1002/humu.24349 (Fonte: oaDOI API)
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