Pathogenic variation in SMCHD1 causing arhinia: a mild form of bosma arhinia microphthalmia syndrome? (2023)
- Authors:
- USP affiliated authors: TONELLO, CRISTIANO - HRAC ; ALONSO, NIVALDO - HRAC ; NAKATA, NANCY MIZUE KOKITSU - HRAC ; CEIDE, ROSELI MARIA ZECHI - HRAC ; SEGARRA, VINICIUS CONTRUCCI DANTAS - HRAC
- Unidade: HRAC
- Subjects: ANORMALIDADES CRANIOFACIAIS; GENÉTICA; NARIZ (ANATOMIA)
- Language: Inglês
- Imprenta:
- Publisher: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo
- Publisher place: Bauru
- Date published: 2023
- Source:
- Título: Anais
- Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas
-
ABNT
SEGARRA, Vinicius Contrucci Dantas et al. Pathogenic variation in SMCHD1 causing arhinia: a mild form of bosma arhinia microphthalmia syndrome? 2023, Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2023. Disponível em: https://repositorio.usp.br/directbitstream/c33390ec-c259-4cf4-93be-6b5dc3ad9c53/3242110.pdf. Acesso em: 11 fev. 2026. -
APA
Segarra, V. C. D., Tonello, C., Alonso, N., Shaw, N., Kokitsu-Nakata, N. M., & Zechi-Ceide, R. M. (2023). Pathogenic variation in SMCHD1 causing arhinia: a mild form of bosma arhinia microphthalmia syndrome? In Anais. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/c33390ec-c259-4cf4-93be-6b5dc3ad9c53/3242110.pdf -
NLM
Segarra VCD, Tonello C, Alonso N, Shaw N, Kokitsu-Nakata NM, Zechi-Ceide RM. Pathogenic variation in SMCHD1 causing arhinia: a mild form of bosma arhinia microphthalmia syndrome? [Internet]. Anais. 2023 ;[citado 2026 fev. 11 ] Available from: https://repositorio.usp.br/directbitstream/c33390ec-c259-4cf4-93be-6b5dc3ad9c53/3242110.pdf -
Vancouver
Segarra VCD, Tonello C, Alonso N, Shaw N, Kokitsu-Nakata NM, Zechi-Ceide RM. Pathogenic variation in SMCHD1 causing arhinia: a mild form of bosma arhinia microphthalmia syndrome? [Internet]. Anais. 2023 ;[citado 2026 fev. 11 ] Available from: https://repositorio.usp.br/directbitstream/c33390ec-c259-4cf4-93be-6b5dc3ad9c53/3242110.pdf - Hemiarhinia caused by a missense variation in SMCHD1: a mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome
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