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Article

[Clinical and genetic characteristics of a patient with dyskeratosis congenita].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Nov 2009

Li Jian-guo, Li Yan, Lin Zhi-miao, Ma Zhi-hong, Li Jun-hui, Liu Rong, Shi Xiao-dong, Yang Yong, Wang Tian-you

Abstract excerpt

OBJECTIVE: To analyze the clinical features and gene mutation of a patient with dyskeratosis congenita, who was admitted in our hospital for thrombocytopenia. METHOD: The clinical and laboratory data of a 4 years and 10 months old boy were summarized. DKC1 gene was analyzed using PCR amplification and DNA sequencing. RESULT: The age of onset of the boy was 1 year. He presented with abnormal cutaneous...

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Base Sequence
Cell Cycle Proteins
Child, Preschool
Dyskeratosis Congenita
DKC1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nuclear Proteins

Source

Identifiers

PMID: 20079002

Genes

DKC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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