A novel missense variant p.Ser118Arg in EFNB1 causing ocular hypertelorism and cleft lip and palate in a boy and craniofrontonasal syndrome phenotype in his mother (2023)
- Authors:
- USP affiliated authors: NAKATA, NANCY MIZUE KOKITSU - HRAC ; PITTOLI, SIULAN VENDRAMINI PAULOVICH - HRAC ; CEIDE, ROSELI MARIA ZECHI - HRAC ; GALVANIN, ANA LAURA - HRAC
- Unidade: HRAC
- Subjects: HIPERTELORISMO; FISSURA LÁBIOPALATINA; MUTAÇÃO GENÉTICA; CRANIOSSINOSTOSE
- 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
GALVANIN, Ana Laura et al. A novel missense variant p.Ser118Arg in EFNB1 causing ocular hypertelorism and cleft lip and palate in a boy and craniofrontonasal syndrome phenotype in his mother. 2023, Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2023. Disponível em: https://repositorio.usp.br/directbitstream/2213b263-e03d-4cc1-9a41-f820ec45e341/3240577.pdf. Acesso em: 28 dez. 2025. -
APA
Galvanin, A. L., Kokitsu-Nakata, N. M., Vendramini-Pittoli, S., & Zechi-Ceide, R. M. (2023). A novel missense variant p.Ser118Arg in EFNB1 causing ocular hypertelorism and cleft lip and palate in a boy and craniofrontonasal syndrome phenotype in his mother. In Anais. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/2213b263-e03d-4cc1-9a41-f820ec45e341/3240577.pdf -
NLM
Galvanin AL, Kokitsu-Nakata NM, Vendramini-Pittoli S, Zechi-Ceide RM. A novel missense variant p.Ser118Arg in EFNB1 causing ocular hypertelorism and cleft lip and palate in a boy and craniofrontonasal syndrome phenotype in his mother [Internet]. Anais. 2023 ;[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/2213b263-e03d-4cc1-9a41-f820ec45e341/3240577.pdf -
Vancouver
Galvanin AL, Kokitsu-Nakata NM, Vendramini-Pittoli S, Zechi-Ceide RM. A novel missense variant p.Ser118Arg in EFNB1 causing ocular hypertelorism and cleft lip and palate in a boy and craniofrontonasal syndrome phenotype in his mother [Internet]. Anais. 2023 ;[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/2213b263-e03d-4cc1-9a41-f820ec45e341/3240577.pdf - A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects
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