Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report

BACKGROUND: Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary fibrinogen deficiencies result from mutations in the genes FGA, FGB, and FGG,...

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Detalles Bibliográficos
Autores principales: Stephen, Joshi, Nampoothiri, Sheela, Vinayan, K. P., Yesodharan, Dhanya, Remesh, Preetha, Gahl, William A., Malicdan, May Christine V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956920/
https://www.ncbi.nlm.nih.gov/pubmed/29769041
http://dx.doi.org/10.1186/s12881-018-0597-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956920/
https://www.ncbi.nlm.nih.gov/pubmed/29769041
http://dx.doi.org/10.1186/s12881-018-0597-6

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