Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.

He, Min; Lian, GuoLi; Hu, HaiPeng; He, Huan; Wang, Miaomiao

He, Min; Lian, GuoLi; Hu, HaiPeng; He, Huan; Wang, Miaomiao.

Afiliación

He M; Department of Pediatric, the First Affiliated Hospital of Xi'an Jiaotong University, Xi 'an 710061, People's Republic of China.
Lian G; Department of Pediatric, the First Affiliated Hospital of Xi'an Jiaotong University, Xi 'an 710061, People's Republic of China.
Hu H; Department of Pediatric, the First Affiliated Hospital of Xi'an Jiaotong University, Xi 'an 710061, People's Republic of China.
He H; Department of Pediatric, the First Affiliated Hospital of Xi'an Jiaotong University, Xi 'an 710061, People's Republic of China.
Wang M; Department of Pediatric, the First Affiliated Hospital of Xi'an Jiaotong University, Xi 'an 710061, People's Republic of China.

Turk J Pediatr ; 65(5): 845-852, 2023.

Article en En | MEDLINE | ID: mdl-37853975

Asunto(s)

Reservorios Cólicos; Disqueratosis Congénita; Discapacidad Intelectual; Microcefalia; Humanos; ADN Helicasas/genética; Disqueratosis Congénita/genética; Disqueratosis Congénita/metabolismo; Retardo del Crecimiento Fetal; Inestabilidad Genómica; Discapacidad Intelectual/genética; Microcefalia/genética; Microcefalia/metabolismo; Mutación; Telómero/metabolismo

Palabras clave

Blake`s pouch cyst; Hoyeraal-Hreidarsson syndrome; dyskeratosis congenita; telomere length

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Disqueratosis Congénita / Reservorios Cólicos / Discapacidad Intelectual / Microcefalia Límite: Humans Idioma: En Revista: Turk J Pediatr Año: 2023 Tipo del documento: Article Pais de publicación: Turquía

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