Prenatal diagnosis of interstitial deletion of 17(p11.2p11.2) (Smith-Magenis syndrome)
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference11 articles.
1. Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p 11.2 p 11.2) (Smith-Magenis syndrome)
2. Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome
3. Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome
4. Complementary duplication and deletion of 17 (pcen→p11.2): A family with a supernumerary chromosome comprised of an interstitially deleted segment
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1. Pleiotropy of Copy Number Variation in Human Genome;Russian Journal of Genetics;2022-10
2. Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders;Genes;2022-02-11
3. Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses;Frontiers in Genetics;2021-12-21
4. SMITH–MAGENIS SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30
5. Prenatal diagnosis of Smith–Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects;Taiwanese Journal of Obstetrics and Gynecology;2016-12
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