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Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping.
Pode-Shakked, Ben; Finezilber, Yael; Levi, Yonit; Liber, Shiri; Fleischer, Nicole; Greenbaum, Lior; Raas-Rothschild, Annick.
Affiliation
  • Pode-Shakked B; The Institute for Rare Diseases, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; The Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Finezilber Y; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Levi Y; The Institute for Rare Diseases, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Liber S; The Institute for Rare Diseases, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Fleischer N; FDNA Inc., Boston, MA, USA.
  • Greenbaum L; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Raas-Rothschild A; The Institute for Rare Diseases, The 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 ; 63(7): 103927, 2020 Jul.
Article in En | MEDLINE | ID: mdl-32298796
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Face / Mucolipidoses Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Israel Country of publication: Países Bajos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Face / Mucolipidoses Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Israel Country of publication: Países Bajos