Concepedia

Proteus Syndrome

Proteus Syndrome is a rare congenital disorder characterized by progressive, asymmetric overgrowth of multiple tissues due to mosaic activating mutations in the AKT1 gene, distinguishing it from other overgrowth syndromes by its sporadic occurrence and variable tissue involvement.

204

Publications

9.9K

Citations

870

Authors

357

Institutions

Publications per year

2017–2026

25

Parents

Publications

204

A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome

Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer et al. · New England Journal of Medicine · 2011 · 887 citations · Full text

, , +14

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline <i>PTEN</i> tumour suppressor gene mutations

Butler Mg, Dasouki Mj, Zhou Xp et al. · Journal of Medical Genetics · 2005 · 784 citations · Full text

, , +17

Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum

Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst et al. · American Journal of Medical Genetics Part A · 2014 · 312 citations · Full text

, , +16

Mutation screening of the <i>PTEN</i> gene in patients with autism spectrum disorders and macrocephaly

Joseph D. Buxbaum, Guiqing Cai, Pauline Chaste et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2007 · 274 citations

, , +17

Newly delineated syndrome of <i>c</i>ongenital <i>l</i>ipomatous <i>o</i>vergrowth, <i>v</i>ascular malformations, and <i>e</i>pidermal nevi (CLOVE syndrome) in seven patients

Julie C. Sapp, Joyce Turner, Jiddeke M. van de Kamp et al. · American Journal of Medical Genetics Part A · 2007 · 241 citations

, , +7

1–5 of 204

Authors

870

  1. LG
    Leslie G. Biesecker

    National Human Genome Research Institute, United States

    27 publications · 2.5K citations

    21

    h-index

  2. JC
    Julie C. Sapp

    National Human Genome Research Institute, United States

    15 publications · 1.9K citations

    13

    h-index

  3. KM
    Kim M. Keppler‐Noreuil

    National Human Genome Research Institute, United States

    12 publications · 1.5K citations

    12

    h-index

  4. MJ
    Marjorie J. Lindhurst

    National Human Genome Research Institute, United States

    10 publications · 1.5K citations

    10

    h-index

  5. TN
    Thomas N. Darling

    Uniformed Services University of the Health Sciences, United States

    8 publications · 1.6K citations

    8

    h-index

1–5 of 870

Institutions

357

  1. National Human Genome Research Institute

    Bethesda, United States

    21 h-index

    116 publications

    19.4K citations

  2. National Institutes of Health

    Bethesda, United States

    17 h-index

    82 publications

    6.9K citations

  3. Dalhousie University

    Halifax, Canada

    10 h-index

    12 publications

    904 citations

  4. University College London

    London, United Kingdom

    7 h-index

    12 publications

    2K citations

  5. Uniformed Services University of the Health Sciences

    Bethesda, United States

    7 h-index

    12 publications

    1.7K citations

  6. Arqule (United States)

    Burlington, United States

    6 h-index

    16 publications

    992 citations

  7. Children's National

    Washington, United States

    5 h-index

    10 publications

    4K citations

  8. National Institutes of Health Clinical Center

    Bethesda, United States

    5 h-index

    8 publications

    590 citations

1–8 of 357

Venues

  1. American Journal of Medical Genetics

    20 publications · 969 citations

    18

    h-index

  2. PubMed

    Repository · 22 publications · 547 citations

    15

    h-index

  3. American Journal of Medical Genetics Part A

    13 publications · 928 citations

    12

    h-index

  4. Journal of the American Academy of Dermatology

    JAAD · 5 publications · 161 citations

    5

    h-index

  5. Journal of Medical Genetics

    JMG · 5 publications · 1K citations

    5

    h-index

1–5