Germline mosaicism in an α‐thalassemia family: Incidental identification by prenatal ultrasound
Author:
Affiliation:
1. Prenatal Diagnostic CenterGuangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University Guangzhou China
2. Department of Obstetrics and GynecologyShenzhen Hospital of Southern Medical University Shenzhen China
Funder
Health and Family Planning Commission of Guangdong Province
Publisher
Wiley
Subject
Genetics(clinical),Obstetrics and Gynaecology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.5534
Reference10 articles.
1. Evidence of recent natural selection on the Southeast Asian deletion (--SEA) causing α-thalassemia in South China
2. The prevalence and spectrum of and thalassaemia in Guangdong Province: implications for the future health burden and population screening
3. Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart’s hydrops fetalis
4. A Fetus with Hb Bart’s Disease Due to Maternal Uniparental Disomy for Chromosome 16
5. Mosaicism and uniparental disomy in prenatal diagnosis
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1. Hemoglobin Yamagata [β132(H10)Lys→Asn; (HBB: c.399A>T)]: a mosaic to be put together;Clinical Chemistry and Laboratory Medicine (CCLM);2021-04-23
2. Germline mosaicism in a collagen VI ‐related myopathy family: A cause of autosomal recessive inheritance;Congenital Anomalies;2021-04-13
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