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
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
  • [21] Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant
    Aiyar, Lila
    Stumbaugh, Tammy
    Hirata, Greigh, I
    Chen, Bruce
    Lau, Helen L.
    Wallerstein, Robert J.
    CLINICAL DYSMORPHOLOGY, 2019, 28 (03) : 162 - 164
  • [22] ACTB variant in a female with Baraitser-Winter cerebrofrontofacial syndrome and sex reversal.
    Serigatto, Henrique
    Kokitsu-Nakata, Nancy
    Vendramini-Pittoli, Siulan
    Kamiya, Tania
    Krepischi, Ana
    Rosenberg, Carla
    Zechi-Ceide, Roseli
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1125 - 1126
  • [23] Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome
    Huang, Yue
    Grand, Katheryn
    Kimonis, Virginia
    Butler, Merlin G.
    Jain, Suparna
    Huang, Alden Yen-Wen
    Martinez-Agosto, Julian A.
    Nelson, Stanley F.
    Sanchez-Lara, Pedro A.
    JOURNAL OF MEDICAL GENETICS, 2021, : 719 - 722
  • [24] Mosaic EGFR exon 20 in-frame insertion pathogenic variants are associated with papular epidermal naevus with 'skyline' basal cell layer (PENS)
    Bessis, Didier
    Poujade, Laura
    Cossee, Mireille
    Boursier, Guilaine
    Barat-Houari, Mouna
    Tharreau, Mylene
    Durand, Luc
    Aguilar, Simon-Cabello
    Solassol, Jerome
    Willems, Marjolaine
    Vendrell, Julie
    BRITISH JOURNAL OF DERMATOLOGY, 2024, 191 (04) : 641 - 644
  • [25] Mosaic Gorlin syndrome with ophthalmological developmental defects and a mosaic SMO variant
    Rustad, Cecilie
    Sjursen, Wenche
    Holtan, Josephine Prener
    Rossow, Anvor
    von der Lippe, Charlotte
    Hortemo, Kristin Halvorsen
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 405 - 405
  • [26] Bending our understanding of actin protein related immune defects: A case report on a likely pathogenic ACTB variant
    Coyle, Tyrone
    Ezhuthachan, Idil
    Jongco, Artemio
    JOURNAL OF CLINICAL IMMUNOLOGY, 2022, 42 (SUPPL 1) : S25 - S26
  • [27] Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser-Winter Cerebrofrontofacial Syndrome
    Nie, Kailai
    Huang, Junting
    Liu, Longqian
    Lv, Hongbin
    Chen, Danian
    Fan, Wei
    FRONTIERS IN GENETICS, 2022, 13
  • [28] Pineoblastoma Without Retinal Tumors in a Patient With a Mosaic Retinoblastoma Pathogenic Variant
    Mustafi, Debarshi
    Waligorski, Natalie
    Paulson, Vera
    Cole, Bonnie
    Crotty, Erin E.
    Stacey, Andrew W.
    JAMA OPHTHALMOLOGY, 2022, 140 (04) : 437 - 439
  • [29] Mosaic CLTC pathogenic variant causing focal epilepsy with normal intelligence
    Sveistrup, Michelle A.
    Myers, Kenneth A.
    EPILEPTIC DISORDERS, 2024, 26 (06) : 875 - 878
  • [30] Sturge-Weber syndrome associated with naevus of Ota
    Recupero, SM
    Abdolrahimzadeh, S
    De Dominicis, M
    Mollo, R
    EYE, 1998, 12 (2) : 212 - 213