Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome

BACKGROUND: Silver‐Russell syndrome (SRS) is a heterogeneous imprinting disorder featuring severe intrauterine and postnatal growth retardation and dysmorphic features. Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the SLC26A4 gene characterized by sensorineural he...

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Detalhes bibliográficos
Publicado no:J Clin Lab Anal
Main Authors: Zhang, Chuan, Hao, Shengju, Zhang, Qinghua, Liu, Furong, Zhou, Bingbo, Xuan, Feng, Xing, Wang, Chen, Xue, Wang, Yan, Ma, Panpan, Cao, Zongfu, Ma, Xu
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7521231/
https://ncbi.nlm.nih.gov/pubmed/32666542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.23407
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