Your browser doesn't support javascript.
loading
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Harris, Sarah C; Chong, Karen; Chitayat, David; Gilmore, Kelly L; Jorge, Alexander A L; Freire, Bruna L; Lerario, Antonio; Shannon, Patrick; Cope, Heidi; Gallentine, William B; Le Guyader, Gwenal; Bilan, Frederic; Létard, Pascaline; Davis, Erica E; Vora, Neeta L.
Afiliação
  • Harris SC; Department of Obstetrics and Gynecology, Prisma Health, University of South Carolina Greenville, Greenville, South Carolina, USA.
  • Chong K; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Gilmore KL; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
  • Jorge AAL; Unidade de Endocrinologia Genética (LIM25) e Laboratório de Endocrinologia Celular e Molecular, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.
  • Freire BL; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, São Paulo, Brazil.
  • Lerario A; Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan, USA.
  • Shannon P; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Cope H; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.
  • Gallentine WB; Department of Neurology and Pediatrics, Stanford University, Lucile Packard Children's Hospital, Palo Alto, California, USA.
  • Le Guyader G; Service de génétique clinique, CHU de Poitiers, Poitiers, France.
  • Bilan F; Service de génétique clinique, CHU de Poitiers, Poitiers, France.
  • Létard P; Laboratoire de Neurosciences Expérimentales et Cliniques, INSERM U1084, Université de Poitiers, Poitiers, France.
  • Davis EE; Service de génétique clinique, CHU de Poitiers, Poitiers, France.
  • Vora NL; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
Am J Med Genet A ; 191(5): 1282-1292, 2023 05.
Article em En | MEDLINE | ID: mdl-36826837
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ciliopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ciliopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos