Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome

Autosomal recessive Chanarin-Dorfman syndrome (CDS, MIM #275630) is defined as a neutral lipid storage disease with ichthyosis (NLSDI) due to an accumulation of lipid droplets in a variety of different tissues including liver and muscle cells, leucocytes, fibroblasts and nerve cells It is caused by...

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Detalles Bibliográficos
Autores principales: Kopp, Julia, Has, Cristina, Hotz, Alrun, Grünert, Sarah C., Fischer, Judith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391107/
https://www.ncbi.nlm.nih.gov/pubmed/34440338
http://dx.doi.org/10.3390/genes12081164

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391107/
https://www.ncbi.nlm.nih.gov/pubmed/34440338
http://dx.doi.org/10.3390/genes12081164

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