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Glomulin mutation and glomuvenous malformations: two case reports with the same mutation but different phenotypes

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European Journal of Dermatology

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References

  1. Wassef M, Blei F, Adams D, et al. Vascular Anomalies Classification: Recommendations from the International Society for the Study of Vascular Anomalies. Pediatrics 2015; 136: e203–14.

    Article  Google Scholar 

  2. Brouillard P, Boon LM, Mulliken JB, et al. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (“glomangiomas”). Am J Hum Genet 2002; 70: 866–74.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Conde–Taboada A, Campos L, Cuccolini L, López–Bran E. Multiple, neonatal, self–healing, cutaneous glomuvenous malformations. Indian J Dermatol Venereol Leprol 2017; 83: 226–8.

    Article  PubMed  Google Scholar 

  4. Vikkula M, Boon LM, Carraway KL III, et al. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell 1996; 87: 1181–90.

    Article  CAS  PubMed  Google Scholar 

  5. Soblet J, Limaye N, Uebelhoer M, Boon LM, Vikkula M. Variable somatic TIE2 mutations in half of sporadic venous malformations. Mol Syndromol 2013; 4: 179–83.

    CAS  PubMed  PubMed Central  Google Scholar 

  6. Soblet J, Kangas J, Nätynki M, et al. Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations. J Invest Dermatol 2017; 137: 207–16.

    Article  CAS  PubMed  Google Scholar 

  7. Brouillard P, Boon LM, Revencu N, et al. Genotypes and phenotypes of 162 families with a glomulin mutation. Mol Syndromol 2013; 4: 157–64.

    CAS  PubMed  PubMed Central  Google Scholar 

  8. Amyere M, Aerts V, Brouillard P, et al. Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. Am J Hum Genet 2013; 92: 188–96.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Unidad de Gestión Clínica Dermatología y Venereología, Cádiz, Spain

    Cristina Collantes-Rodríguez, Lidia Ossorio-García, Isabel Villegas-Romero, David Jiménez-Gallo & Mario Linares-Barrios

  2. Servicio de Inmunología, Unidad de Gestión Clínica de Hematología, Inmunología y Genética, Hospital Universitario Puerta del Mar, Cádiz, Spain

    Raquel De La Varga-Martínez & Francisco Mora-López

Authors
  1. Cristina Collantes-Rodríguez
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  2. Raquel De La Varga-Martínez
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  3. Lidia Ossorio-García
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  4. Isabel Villegas-Romero
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  5. David Jiménez-Gallo
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  6. Francisco Mora-López
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  7. Mario Linares-Barrios
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Corresponding author

Correspondence to Cristina Collantes-Rodríguez.

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Collantes-Rodríguez, C., De La Varga-Martínez, R., Ossorio-García, L. et al. Glomulin mutation and glomuvenous malformations: two case reports with the same mutation but different phenotypes. Eur J Dermatol 28, 716–718 (2018). https://doi.org/10.1684/ejd.2018.3390

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  • DOI: https://doi.org/10.1684/ejd.2018.3390

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