A novel mutation inLMX1Bgene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings

被引：2

作者：

Tognetti, Linda ^{[1
]}

Baldassarri, Margherita ^{[2
]}

Fava, Francesca ^{[2
,3
]}

Provvidenziale, Luca ^{[1
]}

Cinotti, Elisa ^{[1
]}

Renieri, Alessandra ^{[2
,3
]}

Rubegni, Pietro ^{[1
]}

机构：

[1] Siena Univ Hosp, Dept Med Surg & Neurosci, Dermatol Unit, Siena, Italy

[2] Univ Siena, Med Genet, Siena, Italy

[3] Azienda Osped Univ Senese, Genet Med, Siena, Italy

来源：

PEDIATRIC DERMATOLOGY | 2020年 / 37卷 / 06期

关键词：

anonychia; genetic diseases; mechanisms; genodermatoses; LMX1B; nail disorders; nail-patella syndrome; triangular lunula;

D O I：

10.1111/pde.14337

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

We report on a 3-month-old female patient presenting with bilateral anonychia of the thumbnails and hyponychia of the index nails. Clinico-dermoscopic examination revealed triangular lunulae in all fingernails. Sequence analysis ofLMX1Bgene identified a novel heterozygous de novo mutation within exon 2, pathogenetic for a nail-patella syndrome.

引用

页码：1205 / 1206

页数：2

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