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

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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Bibliographic Details
Main Authors: Valentina Cirello, Valentina Giorgini, Chiara Castronovo, Susan Marelli, Ester Mainini, Alessandra Sironi, Maria Paola Recalcati, Marco Pessina, Daniela Giardino, Lidia Larizza, Luca Persani, Palma Finelli, Silvia Russo, Laura Fugazzola
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-11-01
Series:Frontiers in Genetics
Subjects:
pendred syndrome
silver-russell syndrome
SLC26A4
post-natal growth retardation
uniparental disomy
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00600/full

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