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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:
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
Descripción
Sumario: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.