A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene.

Jia, Tao; Zheng, Yi; Feng, Cheng; Yang, Tielin; Geng, Songmei

Jia, Tao; Zheng, Yi; Feng, Cheng; Yang, Tielin; Geng, Songmei.

Afiliación

Jia T; Department of Dermatology, Northwest Hospital, The Second Hospital Affiliated to Xi'an Jiaotong University, Xi'an, China.
Zheng Y; Department of Dermatology, Northwest Hospital, The Second Hospital Affiliated to Xi'an Jiaotong University, Xi'an, China.
Feng C; Department of Dermatology, Northwest Hospital, The Second Hospital Affiliated to Xi'an Jiaotong University, Xi'an, China.
Yang T; Key Laboratory of Biomedical Information Engineering of Ministry of Education, Biomedical Informatics & Genomics Center, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, Shaanxi, People's Republic of China. yangtielin@xjtu.edu.cn.
Geng S; Department of Dermatology, Northwest Hospital, The Second Hospital Affiliated to Xi'an Jiaotong University, Xi'an, China. gsm312@yahoo.com.

BMC Med Genet ; 21(1): 126, 2020 06 08.

Article en En | MEDLINE | ID: mdl-32513120

Asunto(s)

Pueblo Asiatico/genética; Eritema Nudoso/genética; Dedos/anomalías; Mutación/genética; Complejo de la Endopetidasa Proteasomal/genética; Secuencia de Bases; Preescolar; Eritema Nudoso/patología; Dedos/patología; Heterocigoto; Humanos; Masculino

Palabras clave

Compound heterozygous mutations; Nakajo-Nishimura syndrome; PRAAS; PSMB8

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pueblo Asiatico / Complejo de la Endopetidasa Proteasomal / Eritema Nudoso / Dedos / Mutación Límite: Child, preschool / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: China

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