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Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.
La Fay, Charlotte; Hoebeke, Celia; Juzaud, Marine; Spraul, Anne; Heux, Pauline; Dubus, Jean-Christophe; Hadchouel, Alice; Fabre, Alexandre.
Afiliación
  • La Fay C; Department of Pediatric Gastroenterology and Hepatology, Multidisciplinary Pediatric, Aix Marseille University, La Timone Children Hospital, AP-HM, 13005 Marseille, France. Electronic address: Charlotte.la-fay@ap-hm.fr.
  • Hoebeke C; Department of Neuropediatrics and Metabolism, Reference Center of Inherited Metabolic Disorders, La Timone Children Hospital, Marseille, France.
  • Juzaud M; Department of Pediatric Gastroenterology and Hepatology, Multidisciplinary Pediatric, Aix Marseille University, La Timone Children Hospital, AP-HM, 13005 Marseille, France.
  • Spraul A; AP-HP, Hospital Bicêtre, DMU15, Service de Biochimie, Le Kremlin Bicêtre, France.
  • Heux P; Aix Marseille University, INSERM, MMG, Marseille, France.
  • Dubus JC; Service de Médecine Infantile et Pneumologie Pédiatrique, CHU Timone-Enfants, 264 Rue Saint-Pierre, 13385, Marseille Cedex 5, France; Aix-Marseille Université, IRD, AP-HM, MEPHI, IHU Méditerranée-Infection France.
  • Hadchouel A; Pediatric Pulmonology, AP-HP, University Hospital Necker-Enfants Malades, Paris, France.
  • Fabre A; Pediatric Multidisciplinary Pediatric APHM, Timone Enfant, Marseille, France; Aix-Marseille University, INSERM, GMGF, Marseille, France.
Eur J Med Genet ; 64(11): 104334, 2021 Nov.
Article en En | MEDLINE | ID: mdl-34496286
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fenotipo / Enfermedades Pulmonares Intersticiales / Insuficiencia de Crecimiento / Leucina-ARNt Ligasa / Hepatopatías / Metionina-ARNt Ligasa Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fenotipo / Enfermedades Pulmonares Intersticiales / Insuficiencia de Crecimiento / Leucina-ARNt Ligasa / Hepatopatías / Metionina-ARNt Ligasa Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article