Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome (Q24608709)

4

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Ryan Neff

1 reference

ORCID Public Data File 2021

author name string

Kyle C Kurek

1

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Valerie L Luks

2

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Ugur M Ayturk

3

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Steven J Fishman

5

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Samantha A Spencer

6

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John B Mulliken

7

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Guilherme L Yamamoto

9

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Harry P W Kozakewich

10

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Matthew L Warman

American Journal of Human Genetics

11

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language of work or name

English

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publication date

8 June 2012

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published in

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volume

90

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issue

6

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page(s)

1108-15

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cites work

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Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mammary tumorigenesis and emergence of mutations

27 September 2017

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An activating Pik3ca mutation coupled with Pten loss is sufficient to initiate ovarian tumorigenesis in mice

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Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

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CLOVES syndrome with thoracic and central phlebectasia: increased risk of pulmonary embolism.

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Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome

27 September 2017

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Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.

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Complex spinal-paraspinal fast-flow lesions in CLOVES syndrome: analysis of clinical and imaging findings in 6 patients

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22658544

12 December 2020

inferred from PubMed ID database lookup

Klippel-Trenaunay syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22658544

12 December 2020

inferred from PubMed ID database lookup

CLOVE(S) syndrome: expanding the acronym

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22658544

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2012.05.006

1 reference

release_re3paml2qvhp7jreiyvp5xljuu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/re3paml2qvhp7jreiyvp5xljuu

24 November 2022

mapped directly with Wikidata item

1 reference

1 reference

PubMed publication ID

22658544

1 reference