Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome (2002)
- Authors:
- USP affiliated authors: MARTELLI, LUCIA REGINA - FMRP ; RAMOS, ESTER SILVEIRA - FMRP ; ALMEIDA, MARIA LEINE GUION DE - HRAC ; COSTA, ANTONIO RICHIERI DA - HRAC ; PASSOS JUNIOR, GERALDO ALEIXO DA SILVA - FORP
- Unidades: FMRP; HRAC; FORP
- DOI: 10.1034/j.1399-0004.2002.610511.x
- Subjects: GENÉTICA; DNA
- Language: Inglês
- Imprenta:
- Publisher place: Copenhagen
- Date published: 2002
- Source:
- Título: Clinical genetics
- ISSN: 0009-9163
- Volume/Número/Paginação/Ano: v. 61, n. 5, p. 380-383, 2002
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
SANDRIN GARCIA, P et al. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clinical genetics, v. 61, n. 5, p. 380-383, 2002Tradução . . Disponível em: https://doi.org/10.1034/j.1399-0004.2002.610511.x. Acesso em: 28 fev. 2026. -
APA
Sandrin Garcia, P., Macedo, C., Martelli, L. R., Ramos, E. S., Guion Almeida, M. L., Richieri Costa, A., & Passos, G. A. S. (2002). Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clinical genetics, 61( 5), 380-383. doi:10.1034/j.1399-0004.2002.610511.x -
NLM
Sandrin Garcia P, Macedo C, Martelli LR, Ramos ES, Guion Almeida ML, Richieri Costa A, Passos GAS. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome [Internet]. Clinical genetics. 2002 ; 61( 5): 380-383.[citado 2026 fev. 28 ] Available from: https://doi.org/10.1034/j.1399-0004.2002.610511.x -
Vancouver
Sandrin Garcia P, Macedo C, Martelli LR, Ramos ES, Guion Almeida ML, Richieri Costa A, Passos GAS. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome [Internet]. Clinical genetics. 2002 ; 61( 5): 380-383.[citado 2026 fev. 28 ] Available from: https://doi.org/10.1034/j.1399-0004.2002.610511.x - Recurrent 22q11 deletion in a sibship suggestive of parental germ-line mosaicism
- Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2
- Newly recognized autosomal recessive MCA/MR/overgrowth syndrome
- Severe midline craniofacial anomalies: overlap with Pai syndrome
- O serviço de genética clínica no HRAC/USP
- Oral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity?
- Nonsyndromic alar clefts: report of five brazilian patients
- Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause
- Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family
- Pai syndrome: report of seven south american patients
Informações sobre o DOI: 10.1034/j.1399-0004.2002.610511.x (Fonte: oaDOI API)
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