Screening of mutations in EFNB1 gene in Brazilian individuals with craniofrontonasal dysplasia and in male with isolated frontonasal dysplasia: diagnostic implication (2011)
- Authors:
- USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRAC ; ALMEIDA, MARIA LEINE GUION DE - HRAC ; COSTA, ANTONIO RICHIERI DA - HRAC ; JEHEE, FERNANDA MARIA SARQUIS - HRAC ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidades: HRAC; IB
- Subjects: MUTAÇÃO GENÉTICA; HIPERTELORISMO; CRANIOSSINOSTOSE; ANOMALIA CRANIOFACIAL; BRASILEIROS
- Language: Inglês
- Imprenta:
- Publisher: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo
- Publisher place: Bauru
- Date published: 2011
- Source:
- Título: Abstracts
- Conference titles: International Meeting on Craniofacial Anomalies: Clinical Phenotype, Genes Related and New Perspectives
-
ABNT
ZECHI-CEIDE, Roseli Maria et al. Screening of mutations in EFNB1 gene in Brazilian individuals with craniofrontonasal dysplasia and in male with isolated frontonasal dysplasia: diagnostic implication. 2011, Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2011. Disponível em: https://repositorio.usp.br/directbitstream/68e981b3-17a5-4fa1-8fea-6f2383a69a61/3252891.pdf. Acesso em: 28 dez. 2025. -
APA
Zechi-Ceide, R. M., Guion-Almeida, M. L., Richieri-Costa, A., Rodrigues, M. G., Jehee, F. S., & Passos-Bueno, M. R. (2011). Screening of mutations in EFNB1 gene in Brazilian individuals with craniofrontonasal dysplasia and in male with isolated frontonasal dysplasia: diagnostic implication. In Abstracts. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/68e981b3-17a5-4fa1-8fea-6f2383a69a61/3252891.pdf -
NLM
Zechi-Ceide RM, Guion-Almeida ML, Richieri-Costa A, Rodrigues MG, Jehee FS, Passos-Bueno MR. Screening of mutations in EFNB1 gene in Brazilian individuals with craniofrontonasal dysplasia and in male with isolated frontonasal dysplasia: diagnostic implication [Internet]. Abstracts. 2011 ;[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/68e981b3-17a5-4fa1-8fea-6f2383a69a61/3252891.pdf -
Vancouver
Zechi-Ceide RM, Guion-Almeida ML, Richieri-Costa A, Rodrigues MG, Jehee FS, Passos-Bueno MR. Screening of mutations in EFNB1 gene in Brazilian individuals with craniofrontonasal dysplasia and in male with isolated frontonasal dysplasia: diagnostic implication [Internet]. Abstracts. 2011 ;[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/68e981b3-17a5-4fa1-8fea-6f2383a69a61/3252891.pdf - Mutação no gene EFNB1 em indivíduos com displasia craniofrontonasal
- Holoprosencephaly, orofacial cleft, and orbital encephaloceles: a new autosomal recessive syndrome?
- Van Der Woude syndrome/popliteal pterigium syndrome: clinical and genetic variability in brazilian patients with IRF6 gene mutations
- Alobar holoprosencephaly in 2 sibs: an autosomal recessive type?
- Topic Area: genetic and Related Anomalies. Genic locus investigation in families with Richieri-Costa-Pereira Syndrome
- Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
- Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene
- Refinamento citogenético em indivíduos com anomalias craniofaciais sindrômicas sem diagnóstico definido
- Robin sequence with cleft mandible and limb anomalies: a brazilian founder condition or an extremely rare syndrome?
- Mutação no gene EFTUD2 em um caso familial com disostose mandibulofacial tipo Guion-Almeida
Download do texto completo
| Tipo | Nome | Link | |
|---|---|---|---|
 |
3252891.pdf |
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
