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Clinical characteristics of RTS Type 2 individuals with RECQL4 mutations.

Figshare2021-12-29 更新2026-04-28 收录

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https://figshare.com/articles/dataset/Clinical_characteristics_of_RTS_Type_2_individuals_with_RECQL4_mutations_/17703452 数据链接链接失效反馈

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资源简介：

Clinical characteristics of RTS Type 2 individuals with RECQL4 mutations.

应用场景：

创建时间：

2021-12-29

Rothmund-Thomson综合征

眼表疾病

ABSTRACT Rothmund-Thomson syndrome (RTS) is a rare dermatosis with about 300 cases reported to date. The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix s

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SOMATIC AND GERMLINE ANALYSIS OF A FAMILIAL CASE OF ROTHMUND-THOMSON SYNDROME IN TWO SIBLINGS WITH OSTEOSARCOMA

骨肉瘤基因组分析

Rothmund-Thomson综合征

Familiar case of Rothmund Thomson syndrome in two siblings both diagnosed of osteosarcoma. Genomic analysis of both tumors (203 genes) as well as germline analysis of the RECQL4 gene, have been perfor

NIAID Data Ecosystem40

Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature

Rothmund-Thomson综合征

眼表疾病

Figshare2016-06-01 更新10

Clinical characteristics of RTS Type 2 individuals with RECQL4 mutations.

Rothmund-Thomson综合征

RECQL4基因突变

Clinical characteristics of RTS Type 2 individuals with RECQL4 mutations.

NIAID Data Ecosystem40

Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature

Rothmund-Thomson综合征