A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris

Coexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management. Further exploration of associated problems, including hearing loss and developmen...

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Detalles Bibliográficos
Autores principales: Shearer, Zackary, White, Gwenevere, Steed, John Zachary, Brown, Carla, Venable, Tara, Baber, Megan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509338/
https://www.ncbi.nlm.nih.gov/pubmed/37736478
http://dx.doi.org/10.1002/ccr3.7910
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author Shearer, Zackary
White, Gwenevere
Steed, John Zachary
Brown, Carla
Venable, Tara
Baber, Megan
author_facet Shearer, Zackary
White, Gwenevere
Steed, John Zachary
Brown, Carla
Venable, Tara
Baber, Megan
author_sort Shearer, Zackary
collection PubMed
description Coexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management. Further exploration of associated problems, including hearing loss and developmental delay, is warranted in patients with these mutations.
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spelling pubmed-105093382023-09-21 A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris Shearer, Zackary White, Gwenevere Steed, John Zachary Brown, Carla Venable, Tara Baber, Megan Clin Case Rep Case Report Coexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management. Further exploration of associated problems, including hearing loss and developmental delay, is warranted in patients with these mutations. John Wiley and Sons Inc. 2023-09-19 /pmc/articles/PMC10509338/ /pubmed/37736478 http://dx.doi.org/10.1002/ccr3.7910 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Shearer, Zackary
White, Gwenevere
Steed, John Zachary
Brown, Carla
Venable, Tara
Baber, Megan
A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris
title A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris
title_full A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris
title_fullStr A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris
title_full_unstemmed A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris
title_short A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris
title_sort novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509338/
https://www.ncbi.nlm.nih.gov/pubmed/37736478
http://dx.doi.org/10.1002/ccr3.7910
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