CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.,Genetics in Medicine

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CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2018-08-01 , DOI: 10.1038/gim.2017.200
Lara Rodriguez-Laguna ₁ , Kristina Ibañez ₂ , Gema Gordo _{1,

3} , Sixto Garcia-Minaur _{3,

4} , Fernando Santos-Simarro _{3,

4} , Noelia Agra ₁ , Elena Vallespín _{3,

5} , Victoria E Fernández-Montaño ₅ , Rubén Martín-Arenas ₅ , Ángela Del Pozo ₂ , Héctor González-Pecellín ₅ , Rocío Mena _{3,

5} , Inmaculada Rueda-Arenas ₅ , María V Gomez ₅ , Cristina Villaverde _{3,

6} , Ana Bustamante _{3,

6} , Carmen Ayuso _{3,

6} , Víctor L Ruiz-Perez _{3,

7} , Julián Nevado _{3,

5} , Pablo Lapunzina _{3,

4} , Juan C Lopez-Gutierrez ₈ , Victor Martinez-Glez _{1,

3}

Affiliation

CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. Here we tested the hypothesis that, although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism.

中文翻译：

CLAPO 综合征：体细胞激活 PIK3CA 突变的鉴定和自然史和表型的描述。

CLAPO 综合征是一种罕见的血管疾病，其特征是下唇毛细血管畸形、面部和颈部淋巴管畸形、不对称和部分/全身过度生长。在这里，我们检验了一个假设，即尽管遗传原因尚不清楚，但 CLAPO 临床表现的组织分布似乎遵循体细胞嵌合模式。

更新日期：2018-02-15

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