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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521231/
https://www.ncbi.nlm.nih.gov/pubmed/32666542
http://dx.doi.org/10.1002/jcla.23407

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521231/
https://www.ncbi.nlm.nih.gov/pubmed/32666542
http://dx.doi.org/10.1002/jcla.23407

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