Apparent germline mosaicism for a 15q11-q13 deletion causing recurrent Angelman syndrome in a Chinese family
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynaecology,Reproductive Medicine
Reference5 articles.
1. Angelman syndrome - insights into a rare neurogenetic disorder;Buiting;Nat Rev Neurol,2016
2. Germline mosaicism of a novel UBE3A mutation in Angelman syndrome;Hosoki;Am J Med Genet A,2005
3. Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism;Trevisson;Clin Genet,2014
4. Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism;Koolen;Eur J Hum Genet,2012
5. Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A;Nimmakayalu;Am J Med Genet A,2013
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1. Pleiotropy of Copy Number Variation in Human Genome;Russian Journal of Genetics;2022-10
2. Parental germline mosaic transmission of 5p13.2 microduplication in two siblings of a Chinese family;Journal of Obstetrics and Gynaecology;2021-10-23
3. Molecular Genetics and Prenatal Diagnosis;Genetic Disorders and the Fetus;2021-04-20
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