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Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.
Chorin, Odelia; Chowers, Guy; Agbariah, Rawan; Karklinsky, Shani; Barel, Ortal; Bar-Joseph, Ifat; Reznik-Wolf, Haike; Shamash, Jana; Pode-Shakked, Ben; Jacobson, Jeffrey M; Huna-Baron, Ruth; Redler, Yael; Tirosh, Irit; Vivante, Asaf; Raas-Rothschild, Annick.
Afiliação
  • Chorin O; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Chowers G; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Agbariah R; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Karklinsky S; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Barel O; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel; The Wohl Institute of Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Bar-Joseph I; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel; The Wohl Institute of Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Reznik-Wolf H; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Shamash J; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
  • Pode-Shakked B; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer
  • Jacobson JM; Pediatric Imaging Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Huna-Baron R; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Neuro-Ophthalmology Unit, Sheba Medical Center, Tel-Hashomer, Israel.
  • Redler Y; Neuro-Ophthalmology Unit, Sheba Medical Center, Tel-Hashomer, Israel.
  • Tirosh I; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Vivante A; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel; Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer,
  • Raas-Rothschild A; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: Annick.Rothschild@sheba.health.gov.il.
Eur J Med Genet ; 65(1): 104383, 2022 Jan.
Article em En | MEDLINE | ID: mdl-34798323
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteopetrose / Deficiências do Desenvolvimento / Atrofia Óptica / Proteínas Serina-Treonina Quinases Limite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteopetrose / Deficiências do Desenvolvimento / Atrofia Óptica / Proteínas Serina-Treonina Quinases Limite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Ano de publicação: 2022 Tipo de documento: Article