A case report of PHF6 mosaicism: Beyond the classic Borjeson-Forssman-Lehmann syndrome

被引：3

作者：

Garcia-Melendo, Cristina ^{[1
]}

Roe, Esther ^{[1
]}

Rodriguez-Santiago, Benjamin ^{[2
]}

Amat-Samaranch, Victoria ^{[1
]}

Cubiro, Xavier ^{[1
]}

Puig, Lluis ^{[1
]}

Boronat, Susana ^{[3
]}

机构：

[1] Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Dermatol, Barcelona, Spain

[2] Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Genet, Barcelona, Spain

[3] Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Pediat, Barcelona, Spain

来源：

PEDIATRIC DERMATOLOGY | 2021年 / 38卷 / 04期

关键词：

genetic diseases; mechanisms; pigmentary disorders; MUTATION; FEMALES; MANIFESTATIONS; PHENOTYPES; DELETIONS;

D O I：

10.1111/pde.14636

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

We report a 6-year-old female with linear skin hyperpigmentation on the axillae and groin, intellectual disability, dysplastic teeth and nails, and facial dysmorphism who was diagnosed with a novel PHF6 pathogenic splicing variant. Males with PHF6 mutations have been associated with the X-linked recessive disorder Borjeson-Forssman-Lehmann, but females have a distinct phenotype which is likely modulated by X-inactivation.

引用

页码：919 / 925

页数：7

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