Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome

被引：3

作者：

Shankar, Sukesh Gautam ^{[1
]}

Rangarajan, Sudha ^{[1
]}

Priyadarshini, Anuradha ^{[1
]}

Swaminathan, Adikrishnan ^{[1
]}

Sundaram, Murugan ^{[1
]}

机构：

[1] SRIHER, Dept Dermatol Venereol & Leprol, Chennai 600116, Tamil Nadu, India

来源：

PEDIATRIC DERMATOLOGY | 2020年 / 37卷 / 02期

关键词：

genodermatoses; histiocytic disorders; MUTATIONS; DISORDER;

D O I：

10.1111/pde.14075

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

H syndrome (OMIM 6027820) is a novel form of histiocytosis affecting multiple organs with peculiar cutaneous manifestations. It is an autosomal recessive genodermatosis caused by pathogenic mutations in SLC29A3 that encodes the human equilibrative nucleoside transporter, hENT3. The cutaneous manifestations can mimic other sclerodermoid conditions. We present a 15-year-old boy diagnosed with H syndrome with typical clinical features and homozygosity for a novel pathogenic mutation.

引用

页码：333 / 336

页数：4

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