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Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11.
Starosta, Rodrigo Tzovenos; Granadillo, Jorge Luis; Patel, Kalyani R; Finegold, Milton J; Stoll, Janis; Kulkarni, Sakil.
Afiliação
  • Starosta RT; Division of Genetics and Genomic Medicine, Department of Pediatrics, 7548Washington University in Saint Louis, Saint Louis Children's Hospital, Washington University in Saint Louis, Saint Louis, Missouri.
  • Granadillo JL; Department of Pediatrics, 7548Washington University in Saint Louis, Washington University in Saint Louis, St. Louis Children's Hospital, Saint Louis, Missouri.
  • Patel KR; Division of Genetics and Genomic Medicine, Department of Pediatrics, 7548Washington University in Saint Louis, Saint Louis Children's Hospital, Washington University in Saint Louis, Saint Louis, Missouri.
  • Finegold MJ; Department of Pathology and Immunology, Texas Children's Hospital, Houston, Texas.
  • Stoll J; Baylor College of Medicine, Houston, Texas.
  • Kulkarni S; Department of Pediatrics, 7548Washington University in Saint Louis, Washington University in Saint Louis, St. Louis Children's Hospital, Saint Louis, Missouri.
Pediatr Dev Pathol ; 25(2): 174-179, 2022.
Article em En | MEDLINE | ID: mdl-34428094

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colestase Intra-Hepática / Epilepsia Resistente a Medicamentos / Membro 11 da Subfamília B de Transportadores de Cassetes de Ligação de ATP Tipo de estudo: Diagnostic_studies Limite: Humans / Newborn Idioma: En Revista: Pediatr Dev Pathol Assunto da revista: PATOLOGIA / PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colestase Intra-Hepática / Epilepsia Resistente a Medicamentos / Membro 11 da Subfamília B de Transportadores de Cassetes de Ligação de ATP Tipo de estudo: Diagnostic_studies Limite: Humans / Newborn Idioma: En Revista: Pediatr Dev Pathol Assunto da revista: PATOLOGIA / PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article