Van Der Woude syndrome/popliteal pterigium syndrome: clinical and genetic variability in brazilian patients with IRF6 gene mutations (2009)
- Authors:
- USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRAC ; ALMEIDA, MARIA LEINE GUION DE - HRAC ; COSTA, ANTONIO RICHIERI DA - HRAC ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidades: HRAC; IB
- Subjects: SÍNDROMES OROFACIODIGITAIS; FENÓTIPOS; MUTAÇÃO GENÉTICA
- Agências de fomento:
- Language: Português
- Imprenta:
- Publisher: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais
- Publisher place: Bauru
- Date published: 2009
- Source:
- Título: Anais
- Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas
-
ABNT
ZECHI-CEIDE, Roseli Maria et al. Van Der Woude syndrome/popliteal pterigium syndrome: clinical and genetic variability in brazilian patients with IRF6 gene mutations. 2009, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2009. Disponível em: https://repositorio.usp.br/directbitstream/e333fb59-51fa-4c0b-bbe9-808adb88c976/3209523.pdf. Acesso em: 28 dez. 2025. -
APA
Zechi-Ceide, R. M., Guion-Almeida, M. L., Ribeiro, L. A., Oliveira, N. A. J., Richieri-Costa, A., & Passos-Bueno, M. R. (2009). Van Der Woude syndrome/popliteal pterigium syndrome: clinical and genetic variability in brazilian patients with IRF6 gene mutations. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/e333fb59-51fa-4c0b-bbe9-808adb88c976/3209523.pdf -
NLM
Zechi-Ceide RM, Guion-Almeida ML, Ribeiro LA, Oliveira NAJ, Richieri-Costa A, Passos-Bueno MR. Van Der Woude syndrome/popliteal pterigium syndrome: clinical and genetic variability in brazilian patients with IRF6 gene mutations [Internet]. Anais. 2009 ;[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/e333fb59-51fa-4c0b-bbe9-808adb88c976/3209523.pdf -
Vancouver
Zechi-Ceide RM, Guion-Almeida ML, Ribeiro LA, Oliveira NAJ, Richieri-Costa A, Passos-Bueno MR. Van Der Woude syndrome/popliteal pterigium syndrome: clinical and genetic variability in brazilian patients with IRF6 gene mutations [Internet]. Anais. 2009 ;[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/e333fb59-51fa-4c0b-bbe9-808adb88c976/3209523.pdf - 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
- Mutação no gene EFNB1 em indivíduos com displasia craniofrontonasal
- Screening of mutations in EFNB1 gene in Brazilian individuals with craniofrontonasal dysplasia and in male with isolated frontonasal dysplasia: diagnostic implication
- 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
- A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia
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