Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis.

Barry, Kelly K; Liang, Marilyn G; Balkin, Daniel M; Srivastava, Siddharth; Church, Alanna J; Eng, Whitney

Barry, Kelly K; Liang, Marilyn G; Balkin, Daniel M; Srivastava, Siddharth; Church, Alanna J; Eng, Whitney.

Afiliação

Barry KK; Tufts University School of Medicine, Boston, Massachusetts, USA.
Liang MG; Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Balkin DM; Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Srivastava S; Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Church AJ; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Eng W; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Pediatr Dermatol ; 41(1): 76-79, 2024.

Article em En | MEDLINE | ID: mdl-37486073

Assuntos

Oftalmopatias; Lipomatose; Síndromes Neurocutâneas; Humanos; Síndromes Neurocutâneas/diagnóstico; Síndromes Neurocutâneas/genética; Síndromes Neurocutâneas/terapia; Sequenciamento de Nucleotídeos em Larga Escala; Lipomatose/diagnóstico; Lipomatose/genética; Lipomatose/terapia

Palavras-chave

ECCL; FGFR1; KRAS; RASopathy; encephalocraniocutaneous lipomatosis; linear nevus sebaceous syndrome; mosaic; oculoectodermal syndrome

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Neurocutâneas / Oftalmopatias / Lipomatose Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Pediatr Dermatol Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google