Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference29 articles.
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3. Clinical features in a de novo interstitial deletion 15q13 to q15;Autio;Clin Genet,1988
4. De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch;Bielinska;Nat Genet,2000
5. Prader-Willi syndrome: Clinical genetics, cytogenetics and molecular biology;Bittel;Expert Rev Mol Med,2005
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4. The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature;Genes;2021-06-07
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