Literature DB >> 32725253

Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle.

Kinan Hayani1, Kathrin Giehl, Jörg Kumbrink, Judith Fischer, Max Schlaak, Lars E French, Andreas Wollenberg.   

Abstract

is missing (Short communication).

Entities:  

Keywords:  RASopathy; Schimmelpenning-Feuerstein-Mims syndrome; next generation sequencing; phacomatosis pigmentokertotica

Mesh：

Year:  2020        PMID： 32725253      PMCID： PMC9207640          DOI： 10.2340/00015555-3599

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


  6 in total

1.  Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

Authors:  Leopold Groesser; Eva Herschberger; Arno Ruetten; Claudia Ruivenkamp; Enrico Lopriore; Markus Zutt; Thomas Langmann; Sebastian Singer; Laura Klingseisen; Wulf Schneider-Brachert; Agusti Toll; Francisco X Real; Michael Landthaler; Christian Hafner
Journal:  Nat Genet       Date:  2012-06-10       Impact factor: 38.330

2.  Nevus sebaceus is a mosaic RASopathy.

Authors:  Rudolf Happle
Journal:  J Invest Dermatol       Date:  2013-03       Impact factor: 8.551

3.  Tumors arising in nevus sebaceus: A study of 596 cases.

Authors:  B Cribier; Y Scrivener; E Grosshans
Journal:  J Am Acad Dermatol       Date:  2000-02       Impact factor: 11.527

4.  Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man.

Authors:  Andreas Wollenberg; Cristina Butnaru; Tilmann Oppel
Journal:  Acta Derm Venereol       Date:  2002       Impact factor: 4.437

5.  Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.

Authors:  Leopold Groesser; Eva Herschberger; Ana Sagrera; Tor Shwayder; Katharina Flux; Laura Ehmann; Andreas Wollenberg; Antonio Torrelo; Lorea Bagazgoitia; Blanca Diaz-Ley; Sigrid Tinschert; Ilske Oschlies; Sebastian Singer; Marion Mickler; Agusti Toll; Michael Landthaler; Francisco X Real; Christian Hafner
Journal:  J Invest Dermatol       Date:  2013-01-21       Impact factor: 8.551

6.  Secondary neoplasms associated with nevus sebaceus of Jadassohn: a study of 707 cases.

Authors:  Munir H Idriss; Dirk M Elston
Journal:  J Am Acad Dermatol       Date:  2013-11-20       Impact factor: 11.527
  6 in total

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