Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB

被引：0
|
作者：
Bali, Radhika [1 ]
Hussain, Khawar [2 ]
Roberts, Nerys [1 ]
Laguda, Bisola [1 ]
机构：
[1] Chelsea & Westminster Hosp NHS Fdn Trust, London, England
[2] Charing Cross Hosp, London, England
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2023年 / 188卷
关键词：
D O I：
10.1093/bjd/ljad113.319
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
PA15
引用
收藏
页数：1
相关论文
共 50 条
  • [11] Becker Naevus Syndrome of the Lower Body: A New Case and Review of the Literature
    Schafer, Kristina
    Bauer, Boris
    Donhauser, Julian
    Kerstan, Andreas
    Hamm, Henning
    ACTA DERMATO-VENEREOLOGICA, 2017, 97 (04) : 499 - 504
  • [12] Breast lipofilling as a treatment for breast hypoplasia in Becker naevus syndrome: a case report
    Christodoulides, Natasha
    Kelly, Gerard A.
    O'Sullivan, Sean T.
    JOURNAL OF SURGICAL CASE REPORTS, 2021, (01):
  • [13] Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form
    Koutra, Eleni
    Lusmoeller, Elke
    Fischer, Judith
    Komlosi, Katalin
    Stadler, Rudolf
    Gutzmer, Ralf
    DERMATOLOGIE, 2024, : 486 - 491
  • [14] A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia
    Sibbin, Kristina
    Yap, Patrick
    Nyaga, Denis
    Heller, Raoul
    Evans, Stephen
    Strachan, Kate
    Alburaiky, Salam
    Nguyen, Han M.
    Hermann-Le Denmat, Sylvie
    Ganley, Austen R. D.
    O'Sullivan, Justin M.
    Bloomfield, Frank H.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (04) : 1299 - 1306
  • [15] Disseminated blue naevus and malignant blue naevus associated with excessive aromatase syndrome
    Lobo, A. Z. C.
    Martin, R. M.
    Belda, W., Jr.
    Michi, M. M.
    Arnone, M.
    Festa-Neo, C.
    Sotto, M. N.
    Vilela, M. A. C.
    Sanches, J. A., Jr.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2008, 33 (05) : 591 - 594
  • [16] Mosaic KRAS mutation associated with epidermal naevus and somatic limb overgrowth
    Thu-Ta, Flora
    Bajwa, Dalvir Singh
    Leech, Suzanne
    Dubois, Anna
    Wilson, Brian
    BRITISH JOURNAL OF DERMATOLOGY, 2024, 191 : I137 - I137
  • [17] Identification of a novel pathogenic variant in FBN1 associated with Marfan syndrome
    Pereira, Julia P. P.
    Ferreira, Juliana R. R.
    Botelho, Anna Paula A.
    Melo, Marcelo M. M.
    Dias, Glauber M. M.
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2022, 8 (04):
  • [18] A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding
    Tabata, Kenshiro
    Iida, Aritoshi
    Takeshita, Eri
    Nakagawa, Eiji
    Sato, Noriko
    Sasaki, Masayuki
    Inoue, Ken
    Goto, Yu-ichi
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2020, 412
  • [19] Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with ACTB mutations
    Latham, S. L.
    Ehmke, N.
    Reinke, P. Y. A.
    Taft, M. H.
    Lyons, M. J.
    Friez, M. J.
    Lee, J. A.
    Hecker, R.
    Fruehwald, M. C.
    Becker, K.
    Neuhann, T. M.
    Schrock, E.
    Sarnow, K.
    Gruetzmann, K.
    Gawehn, L.
    Klink, B.
    Rump, A.
    Chaponnier, C.
    Knoefler, R.
    Manstein, D.
    Di Donato, N.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 831 - 832
  • [20] A novel pathogenic variant in the CLDN10 gene associated with HELIX syndrome
    Martinez-Romero, M. C.
    Barreda-Sanchez, M.
    Perez-Tomas, M. E.
    Ballesta-Martinez, M. J.
    Lopez-Gonzalez, V.
    Sanchez-Soler, M. J.
    Serrano-Anton, A. T.
    Rodriguez-Pena, L.
    Hernandez, M. E.
    Martinez-Menchon, T.
    Sanchez-Pedreno, P.
    Glover, G.
    Carbonell, P.
    Cabello-Chaves, V.
    Guillen-Navarro, E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 826 - 827
12345