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Prenatal Phenotypic Analysis of Branchio-Oto-Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review.

Prenatal diagnosis - 1 Nov 2024

Tian Yuan, Lv Yuexia, Wang Handuo, Che Jia, Cui Fangying, Guo Jing, Tian Weifang, Peng Jia, Yang Bo, Li Haiyu, Zhou Baixue, Zhu Xiaolu, Cui Xueyin, Liu Ling

Abstract excerpt

BACKGROUND: Branchio-oto-renal (BOR) spectrum disorders are linked to pathogenic variants in the EYA1 gene, presenting significant challenges for prenatal ultrasound screening due to their phenotypic variability and complexity. Understanding these disorders' phenotypic expressions and genetic foundations is crucial. METHODS: Our study included pregnant women who underwent fetal whole-exome sequencing at the...

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Branchio-Oto-Renal Syndrome
Exome Sequencing
Intracellular Signaling Peptides and Proteins
Nuclear Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Tyrosine Phosphatases

Ultrasonography, Prenatal

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PMID: 39394648
DOI: 10.1002/pd.6673

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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