Atlantoaxial instability associated with ALDH18A1 mutation.

Lucas, Alexandra T; Lin, Angela E; Cohen, Andrew; Muñoz, William; Kahle, Kristopher T; Shin, John H; Buch, Karen; Sahai, Inderneel; Carroll, Ryan W

Lucas, Alexandra T; Lin, Angela E; Cohen, Andrew; Muñoz, William; Kahle, Kristopher T; Shin, John H; Buch, Karen; Sahai, Inderneel; Carroll, Ryan W.

Afiliação

Lucas AT; Division of Pediatric Critical Care Medicine, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Lin AE; Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Cohen A; Department of Pediatrics, MassGeneral for Children, Harvard Medical School, Boston, Massachusetts, USA.
Muñoz W; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA.
Kahle KT; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA.
Shin JH; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA.
Buch K; Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Sahai I; Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Carroll RW; Division of Pediatric Critical Care Medicine, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.

Am J Med Genet A ; 191(12): 2898-2902, 2023 12.

Article em En | MEDLINE | ID: mdl-37655511

Assuntos

Cútis Laxa; Instabilidade Articular; Doenças da Coluna Vertebral; Masculino; Humanos; Criança; Instabilidade Articular/diagnóstico; Instabilidade Articular/genética; Cútis Laxa/genética; Mutação; Vértebras Cervicais/cirurgia; Vértebras Cervicais/patologia

Palavras-chave

cervical instability; cervical spine screening; metabolic cutis laxa

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças da Coluna Vertebral / Cútis Laxa / Instabilidade Articular Tipo de estudo: Risk_factors_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google