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UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Schnur, Rhonda E; Yousaf, Sairah; Liu, James; Chung, Wendy K; Rhodes, Lindsay; Marble, Michael; Zambrano, Regina M; Sobreira, Nara; Jayakar, Parul; Pierpont, Mary Ella; Schultz, Matthew J; Pichurin, Pavel N; Olson, Rory J; Graham, Gail E; Osmond, Matthew; Contreras-García, Gustavo A; Campo-Neira, Karina A; Peñaloza-Mantilla, Camilo A; Flage, Mark; Kuppa, Srikar; Navarro, Karina; Sacoto, Maria J Guillen; Wentzensen, Ingrid M; Scarano, Maria I; Juusola, Jane; Prada, Carlos E; Hufnagel, Robert B.
Afiliação
  • Schnur RE; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA. rschnur@genedx.com.
  • Yousaf S; Division of Genetics, Department of Pediatrics, Cooper Medical School of Rowan University, Cooper University Health Care, Camden, NJ, USA. rschnur@genedx.com.
  • Liu J; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
  • Chung WK; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
  • Rhodes L; Division of Clinical Genetics, Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA.
  • Marble M; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA.
  • Zambrano RM; Department of Pediatrics, Division of Pediatric Genetics, University of New Mexico Health Sciences Center, Albuquerque, NM, USA.
  • Sobreira N; Department of Pediatrics, Division of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, USA.
  • Jayakar P; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
  • Pierpont ME; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.
  • Schultz MJ; Departments of Pediatrics and Ophthalmology, University of Minnesota Medical School, Minneapolis, MN, USA.
  • Pichurin PN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Olson RJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Graham GE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Osmond M; Division of Genetics, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
  • Contreras-García GA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Campo-Neira KA; Division de Genética Médica, Departamento de Pediatría-Hospital Universitario de Santander, Departamento de Ciencias Básicas, Grupo de Investigación en Genética Humana UIS, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia.
  • Peñaloza-Mantilla CA; Semillero de Investigación en Genética Humana SIGENH, Escuela de Medicina, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia.
  • Flage M; Semillero de Investigación en Genética Humana SIGENH, Escuela de Medicina, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia.
  • Kuppa S; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
  • Navarro K; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
  • Sacoto MJG; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
  • Wentzensen IM; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA.
  • Scarano MI; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA.
  • Juusola J; Division of Genetics, Department of Pediatrics, Cooper Medical School of Rowan University, Cooper University Health Care, Camden, NJ, USA.
  • Prada CE; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA.
  • Hufnagel RB; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Genet Med ; 23(9): 1624-1635, 2021 09.
Article em En | MEDLINE | ID: mdl-34040189
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Displasia Ectodérmica / Deformidades Congênitas dos Membros Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
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: Anormalidades Múltiplas / Displasia Ectodérmica / Deformidades Congênitas dos Membros Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos