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Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.
Zepeda-Romero, Luz Consuelo; Zenker, Martin; Schanze, Denny; Schanze, Ina; Peña-Padilla, Christian; Quezada-Salazar, Claudia Angélica; Pacheco-Torres, Paulina Araceli; Rivera-Montellano, María Luisa; Aguirre-Guillén, Rafael Luis; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Corona-Rivera, Jorge Román.
Afiliação
  • Zepeda-Romero LC; Clinic of Retinopathy of Prematurity and Blindness Prevention, 'Fray Antonio Alcalde' Civil Hospital of Guadalajara, Guadalajara, Jalisco, Mexico.
  • Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Schanze D; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Schanze I; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Peña-Padilla C; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Mexico.
  • Quezada-Salazar CA; Service of Neonatology, Pediatrics Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Jalisco, Mexico.
  • Pacheco-Torres PA; Service of Neonatology, Pediatrics Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Jalisco, Mexico.
  • Rivera-Montellano ML; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Mexico.
  • Aguirre-Guillén RL; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Mexico.
  • Bobadilla-Morales L; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Mexico; 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center, University of Guadalajara, Guadalajara, Jalis
  • Corona-Rivera A; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Mexico; 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center, University of Guadalajara, Guadalajara, Jalis
  • Corona-Rivera JR; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Mexico; 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center, University of Guadalajara, Guadalajara, Jalis
Eur J Med Genet ; 65(12): 104653, 2022 Dec.
Article em En | MEDLINE | ID: mdl-36330903
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Deformidades Congênitas dos Membros / Microcefalia Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: México País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Deformidades Congênitas dos Membros / Microcefalia Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: México País de publicação: Holanda