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 (2013)
- Autores:
- Autores USP: CEIDE, ROSELI MARIA ZECHI - HRAC ; COSTA, ANTONIO RICHIERI DA - HRAC ; ALMEIDA, MARIA LEINE GUION DE - HRAC ; MOURA, PRISCILA PADILHA - HRACF
- Unidades: HRAC; HRACF
- DOI: 10.1002/ajmg.a.36057
- Assuntos: SÍNDROME DE PIERRE ROBIN; MUTAÇÃO; ANORMALIDADES MÚLTIPLAS
- Idioma: Inglês
- Imprenta:
- Fonte:
- Título do periódico: American Journal of Medical Genetics. Part A
- ISSN: 1552-4825
- Volume/Número/Paginação/Ano: v. 161, n. 8, p. 2088-2094, Aug. 2013
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
ZECHI-CEIDE, Roseli Maria et al. 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. American Journal of Medical Genetics. Part A, v. 161, n. 8, p. 2088-2094, 2013Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36057. Acesso em: 19 abr. 2024. -
APA
Zechi-Ceide, R. M., Moura, P. P., Raskin, S., Richieri-Costa, A., & Guion-Almeida, M. L. (2013). 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. American Journal of Medical Genetics. Part A, 161( 8), 2088-2094. doi:10.1002/ajmg.a.36057 -
NLM
Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. 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 [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 161( 8): 2088-2094.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.36057 -
Vancouver
Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. 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 [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 161( 8): 2088-2094.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.36057 - 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
- Phenotypic refinement of the mandibulofacial dysostosis Bauru type
- Mutação no gene EFTUD2 em um caso familial com disostose mandibulofacial tipo Guion-Almeida
- Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
- Mandibulofacial dysostosis Bauru type Clinical genetics and radiological aspects in 13 patients: clinical genetics and radiological aspects in 13 patients
- Disostose fronto-nasal: aspectos clínicos e genéticos
- Pai syndrome: report of seven south american patients
- Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes
- Oral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity?
- Nonsyndromic alar clefts: report of five brazilian patients
Informações sobre o DOI: 10.1002/ajmg.a.36057 (Fonte: oaDOI API)
Como citar
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
