Hemiarhinia caused by a missense variation in SMCHD1: a mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome (2024)
- Authors:
- USP affiliated authors: NAKATA, NANCY MIZUE KOKITSU - HRAC ; TONELLO, CRISTIANO - FOB ; BRANDAO, MICHELE MADEIRA - HRAC ; ALONSO, NIVALDO - HRAC ; CEIDE, ROSELI MARIA ZECHI - HRAC ; SEGARRA, VINICIUS CONTRUCCI DANTAS - HRAC
- Unidades: HRAC; FOB
- DOI: 10.1002/ajmg.a.63640
- Subjects: HIPOGONADISMO; ANORMALIDADES CRANIOFACIAIS
- Language: Inglês
- Imprenta:
- Publisher place: Hoboken, NJ
- Date published: 2024
- Source:
- Título: American Journal of Medical Genetics. Part A
- ISSN: 1552-4833
- Volume/Número/Paginação/Ano: v. 194, n. 10, e63640, Oct. 2024
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
KOKITSU-NAKATA, Nancy Mizue et al. Hemiarhinia caused by a missense variation in SMCHD1: a mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome. American Journal of Medical Genetics. Part A, v. 194, n. 10, 2024Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63640. Acesso em: 28 dez. 2025. -
APA
Kokitsu-Nakata, N. M., Segarra, V. C. D., Tonello, C., Brandão, M. M., Alonso, N., & Zechi-Ceide, R. M. (2024). Hemiarhinia caused by a missense variation in SMCHD1: a mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome. American Journal of Medical Genetics. Part A, 194( 10). doi:10.1002/ajmg.a.63640 -
NLM
Kokitsu-Nakata NM, Segarra VCD, Tonello C, Brandão MM, Alonso N, Zechi-Ceide RM. Hemiarhinia caused by a missense variation in SMCHD1: a mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome [Internet]. American Journal of Medical Genetics. Part A. 2024 ; 194( 10):[citado 2025 dez. 28 ] Available from: https://doi.org/10.1002/ajmg.a.63640 -
Vancouver
Kokitsu-Nakata NM, Segarra VCD, Tonello C, Brandão MM, Alonso N, Zechi-Ceide RM. Hemiarhinia caused by a missense variation in SMCHD1: a mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome [Internet]. American Journal of Medical Genetics. Part A. 2024 ; 194( 10):[citado 2025 dez. 28 ] Available from: https://doi.org/10.1002/ajmg.a.63640 - Pathogenic variation in SMCHD1 causing arhinia: a mild form of bosma arhinia microphthalmia syndrome?
- Sinus pericranii: unusual anatomic obstacle to posterior decompression on an amniotic band sequence
- Response to the letter to the editor: non-invasive intracranial pressure analysis in craniosynostosis: an intriguing insight
- Analysis of intracranial pressure waveform using a non-invasive method in individuals with craniosynostosis
- Morfologia da coluna vertebral de indivíduos com espectro oculoauriculo vertebral
- Clinical report of two different surgical approaches for the treatment of hypertelorbitism in patients with frontonasal dysplasia
- Clinical characterization of congenital anophthalmic and microphthalmic cavities in inidviduals with craniofacial anomalies
- Later repaired cleft palate-characterization of the speech
- Tessier's Cleft Number 6 Revisited: A Series of 26 new Cases and Literature Review of 44
- Airway growth in preoperative patients with Crouzon syndrome
Informações sobre o DOI: 10.1002/ajmg.a.63640 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
