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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Dettagli Bibliografici
Pubblicato in:J Clin Lab Anal
Autori principali: Zhang, Chuan, Hao, Shengju, Zhang, Qinghua, Liu, Furong, Zhou, Bingbo, Xuan, Feng, Xing, Wang, Chen, Xue, Wang, Yan, Ma, Panpan, Cao, Zongfu, Ma, Xu
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
Soggetti:
Research Articles
Accesso online: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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