Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.

Moriya, Kunihiko; Niizuma, Hidetaka; Rikiishi, Takeshi; Yamaguchi, Hiroki; Sasahara, Yoji; Kure, Shigeo

Moriya, Kunihiko; Niizuma, Hidetaka; Rikiishi, Takeshi; Yamaguchi, Hiroki; Sasahara, Yoji; Kure, Shigeo.

Afiliación

Moriya K; Department of Pediatrics, Tohoku University Graduate School of Medicine, Aoba-ku, Sendai, Japan.
Niizuma H; Department of Pediatrics, Tohoku University Graduate School of Medicine, Aoba-ku, Sendai, Japan.
Rikiishi T; Department of Pediatrics, Tohoku University Graduate School of Medicine, Aoba-ku, Sendai, Japan.
Yamaguchi H; Department of Hematology, Nippon Medical School, Bunkyo-ku, Tokyo, Japan.
Sasahara Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, Aoba-ku, Sendai, Japan.
Kure S; Department of Pediatrics, Tohoku University Graduate School of Medicine, Aoba-ku, Sendai, Japan.

Pediatr Blood Cancer ; 63(9): 1683-4, 2016 09.

Article en En | MEDLINE | ID: mdl-27128385

Asunto(s)

ADN Helicasas/genética; Disqueratosis Congénita/genética; Retardo del Crecimiento Fetal/genética; Discapacidad Intelectual/genética; Microcefalia/genética; Preescolar; Femenino; Humanos; Mutación

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ADN Helicasas / Disqueratosis Congénita / Retardo del Crecimiento Fetal / Discapacidad Intelectual / Microcefalia Límite: Child, preschool / Female / Humans Idioma: En Revista: Pediatr Blood Cancer Asunto de la revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Año: 2016 Tipo del documento: Article País de afiliación: Japón

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