Concepedia

Carpenter Syndrome

Carpenter Syndrome is a rare autosomal recessive congenital disorder characterized by craniosynostosis, polysyndactyly, and various other systemic anomalies, distinguished from other craniosynostosis syndromes by the combination of acrocephaly, postaxial polydactyly, and cutaneous syndactyly.

47

Publications

1.8K

Citations

218

Authors

115

Institutions

Publications per year

2017–2026

7

Variants

Acrocephalopolysyndactyly Type Ii

Parents

Publications

47

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Dagan Jenkins, Dominik Seelow, Fernanda Sarquis Jehee et al. · The American Journal of Human Genetics · 2007 · 270 citations · Full text

, , +17

An etiologic and nosologic overview of craniosynostosis syndromes.

Cohen Mm · PubMed · 1975 · 157 citations

, , +13

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

Frank Rauch, Somayyeh Fahiminiya, Jacek Majewski et al. · The American Journal of Human Genetics · 2015 · 106 citations · Full text

, , +8

Carpenter's syndrome: Acrocephalopolysyndactyly. An autosomal recessive syndrome

Samia A. Temtamy · The Journal of Pediatrics · 1966 · 98 citations

, , +10

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

Stephen R.F. Twigg, Deborah Lloyd, Dagan Jenkins et al. · The American Journal of Human Genetics · 2012 · 91 citations · Full text

, , +14

1–5 of 47

Authors

218

  1. AO
    Andrew O.M. Wilkie

    University of Oxford, United Kingdom

    4 publications · 415 citations

    4

    h-index

  2. DJ
    Dagan Jenkins

    University College London, United Kingdom

    3 publications · 405 citations

    3

    h-index

  3. AC
    Amaka C Offiah

    University of Sheffield, United Kingdom

    2 publications · 51 citations

    2

    h-index

  4. JM
    John M. Opitz

    University of Wisconsin–Madison, United States

    2 publications · 89 citations

    2

    h-index

  5. DL
    Deborah Lloyd

    University of Exeter, United Kingdom

    2 publications · 101 citations

    2

    h-index

1–5 of 218

Institutions

115

  1. University of Oxford

    Oxford, United Kingdom

    5 h-index

    15 publications

    1.4K citations

  2. Universidade de São Paulo

    São Paulo, Brazil

    3 h-index

    6 publications

    886 citations

  3. University of Sheffield

    Sheffield, United Kingdom

    3 h-index

    11 publications

    268 citations

  4. MRC Weatherall Institute of Molecular Medicine

    Oxford, United Kingdom

    3 h-index

    11 publications

    1.2K citations

  5. Marmara University

    Istanbul, Türkiye

    2 h-index

    2 publications

    135 citations

  6. Birmingham Women's Hospital

    Birmingham, United Kingdom

    2 h-index

    2 publications

    314 citations

  7. The University of Osaka

    Osaka, Japan

    2 h-index

    12 publications

    255 citations

  8. John Radcliffe Hospital

    Oxford, United Kingdom

    2 h-index

    3 publications

    358 citations

1–8 of 115

Venues

  1. PubMed

    Repository · 6 publications · 253 citations

    6

    h-index

  2. American Journal of Medical Genetics Part A

    6 publications · 178 citations

    6

    h-index

  3. American Journal of Medical Genetics

    4 publications · 132 citations

    4

    h-index

  4. The American Journal of Human Genetics

    AJHG · 3 publications · 467 citations

    3

    h-index

  5. Journal of Craniofacial Surgery

    2 publications · 62 citations

    2

    h-index

1–5