Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

Coexistence of different hereditary diseases is a known phenomenon in populations with a high consanguinity rate. The resulting clinical phenotypes are extremely challenging for physicians involved in the care of these patients. Here we describe a 6-year-old boy with co-occurrence of a homozygous sp...

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Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Autores principales: Herebian, Diran, Alhaddad, Bader, Seibt, Annette, Schwarzmayr, Thomas, Danhauser, Katharina, Klee, Dirk, Harmsen, Stefani, Meitinger, Thomas, Strom, Tim M, Schulz, Ansgar, Mayatepek, Ertan, Haack, Tobias B, Distelmaier, Felix
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2017
Materias:
Short Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5558179/
https://ncbi.nlm.nih.gov/pubmed/28612835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.96
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