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Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Grange, Dorothy K; Roessler, Helen I; McClenaghan, Conor; Duran, Karen; Shields, Kathleen; Remedi, Maria S; Knoers, Nine V A M; Lee, Jin-Moo; Kirk, Edwin P; Scurr, Ingrid; Smithson, Sarah F; Singh, Gautam K; van Haelst, Mieke M; Nichols, Colin G; van Haaften, Gijs.
Afiliação
  • Grange DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
  • Roessler HI; Center for the Investigation of Membrane Excitability Diseases (CIMED).
  • McClenaghan C; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Duran K; Center for the Investigation of Membrane Excitability Diseases (CIMED).
  • Shields K; Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, Missouri.
  • Remedi MS; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Knoers NVAM; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
  • Lee JM; Center for the Investigation of Membrane Excitability Diseases (CIMED).
  • Kirk EP; Department of Medicine, Division of Endocrinology, Washington University School of Medicine, St. Louis, Missouri.
  • Scurr I; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
  • Smithson SF; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.
  • Singh GK; Department of Neurology and Radiology, Washington University School of Medicine, St. Louis, Missouri.
  • van Haelst MM; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.
  • Nichols CG; School of Women's and Children's Health, University of New South Wales, Randwick, New South Wales, Australia.
  • van Haaften G; Department of Clinical Genetics, University Hospitals, Bristol, UK.
Am J Med Genet C Semin Med Genet ; 181(4): 658-681, 2019 12.
Article em En | MEDLINE | ID: mdl-31828977

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Sistema de Registros / Cardiomegalia / Hipertricose Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Sistema de Registros / Cardiomegalia / Hipertricose Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article