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CLOVES Syndrome

CLOVES Syndrome diagram by Roadnottaken, Wikimedia
Roadnottaken, Wikimedia

Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) syndrome is a rare genetic disorder caused by mutations in the PIK3CA gene. Symptoms include blood vessel abnormalities, small tissue tumors, skin legions and spinal abnormalities. Here is the latest research.

Top 20 most recent papers
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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome

American Journal of Medical Genetics. Part C, Seminars in Medical GeneticsNovember 7, 2019
Julie C SappLeslie G Biesecker
Genome Medicine

The paradox of cancer genes in non-malignant conditions: implications for precision medicine

Genome MedicineFebruary 19, 2020
Jacob J AdashekRazelle Kurzrock
14
Trends in Molecular Medicine

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders

Trends in Molecular MedicineSeptember 11, 2018
Ralitsa R MadsenRobert K Semple
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57
Genetics in Medicine : Official Journal of the American College of Medical Genetics

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Genetics in Medicine : Official Journal of the American College of Medical GeneticsOctober 2, 2018
Victoria E R ParkerLeslie G Biesecker
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bioRxiv

Oncogenic PIK3CA promotes cellular stemness in an allele dose-dependent manner

bioRxivDecember 13, 2018
Ralitsa R MadsenRobert K Semple
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Proceedings of the National Academy of Sciences of the United States of America

Oncogenic PIK3CA promotes cellular stemness in an allele dose-dependent manner

Proceedings of the National Academy of Sciences of the United States of AmericaApril 6, 2019
Ralitsa R MadsenRobert K Semple
39
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The Journal of Hand Surgery, European Volume

An investigation of PIK3CA mutations in isolated macrodactyly

The Journal of Hand Surgery, European VolumeApril 18, 2018
Jingheng WuYuan Ji
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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome

American Journal of Medical Genetics. Part C, Seminars in Medical GeneticsSeptember 7, 2019
Kim M Keppler-NoreuilLeslie G Biesecker
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Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

PIK3CA-related overgrowth spectrum: concurrence of multiple anomalies in one patient

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGMarch 27, 2018
Fátima Tous-RomeroSara Palencia-Pérez
Archives of Disease in Childhood. Education and Practice Edition

Limb hypertrophy: a skin vascular malformation and bilateral hydroureteronephrosis in a neonate

Archives of Disease in Childhood. Education and Practice EditionMarch 2, 2018
Grazia MorandiSilvana Lauriola
1
The Journal of Experimental Medicine

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

The Journal of Experimental MedicineDecember 29, 2018
Lara Rodriguez-LagunaVictor Martinez-Glez
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Clinical Genetics

Diffuse Capillary Malformation with Overgrowth Contains Somatic PIK3CA Variants

Clinical GeneticsJanuary 8, 2020
Jeremy A GossArin K Greene
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Deutsches Ärzteblatt International

Disorders Caused by Genetic Mosaicism

Deutsches Ärzteblatt InternationalMarch 18, 2020
Ute MoogBirgit Zirn

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