Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability (2016)
- Authors:
- USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRAC ; NAKATA, NANCY MIZUE KOKITSU - HRAC ; PITTOLI, SIULAN VENDRAMINI PAULOVICH - HRAC ; ROSENBERG, CARLA - IB ; COSTA, ANTONIO RICHIERI DA - HRAC
- Unidades: HRAC; IB
- DOI: 10.1159/000450971
- Subjects: ANORMALIDADES CONGÊNITAS; MICROCEFALIA; DEFICIÊNCIA MENTAL; DELEÇÃO DE GENES
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Molecular Syndromology
- ISSN: 1661-8769
- Volume/Número/Paginação/Ano: v. 7, n. 6, p. 344-348, 2016
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
GAMBA, Bruno Faulin; ZECHI-CEIDE, Roseli Maria; KOKITSU-NAKATA, Nancy Mizue; et al. Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability. Molecular Syndromology, Basel, v. 7, n. 6, p. 344-348, 2016. Disponível em: < http://dx.doi.org/10.1159/000450971 > DOI: 10.1159/000450971. -
APA
Gamba, B. F., Zechi-Ceide, R. M., Kokitsu-Nakata, N. M., Vendramini-Pittoli, S., Rosenberg, C., Santos, A. C. A. dos, et al. (2016). Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability. Molecular Syndromology, 7( 6), 344-348. doi:10.1159/000450971 -
NLM
Gamba BF, Zechi-Ceide RM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Santos ACA dos, Ribeiro-Bicudo LA, Richieri-Costa A. Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability [Internet]. Molecular Syndromology. 2016 ; 7( 6): 344-348.Available from: http://dx.doi.org/10.1159/000450971 -
Vancouver
Gamba BF, Zechi-Ceide RM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Santos ACA dos, Ribeiro-Bicudo LA, Richieri-Costa A. Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability [Internet]. Molecular Syndromology. 2016 ; 7( 6): 344-348.Available from: http://dx.doi.org/10.1159/000450971 - Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
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Informações sobre o DOI: 10.1159/000450971 (Fonte: oaDOI API)
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