Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

Pendred syndrome (PS) is an autosomal recessive disorder due to mutations in the SLC26A4 gene (chr7q22. 3) and characterized by sensorineural hearing loss and variable thyroid phenotype. Silver-Russell syndrome (SRS) is a heterogeneous imprinting disorder including severe intrauterine and postnatal...

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Detalles Bibliográficos
Autores principales: Cirello, Valentina, Giorgini, Valentina, Castronovo, Chiara, Marelli, Susan, Mainini, Ester, Sironi, Alessandra, Recalcati, Maria Paola, Pessina, Marco, Giardino, Daniela, Larizza, Lidia, Persani, Luca, Finelli, Palma, Russo, Silvia, Fugazzola, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284021/
https://www.ncbi.nlm.nih.gov/pubmed/30555519
http://dx.doi.org/10.3389/fgene.2018.00600

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284021/
https://www.ncbi.nlm.nih.gov/pubmed/30555519
http://dx.doi.org/10.3389/fgene.2018.00600

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