Article
upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts.
Clinical genetics - 1 Jun 2020
Hjortshøj Tina D, Sørensen Anna R, Yusibova Melodi, Hansen Bo M, Dunø Morten, Balslev-Harder Marie, Grønskov Karen, van Hagen Johanna M, Polstra Abeltje M, Eggermann Thomas, Finken Martijn J J, Tümer Zeynep
Abstract excerpt
Silver-Russell syndrome (SRS) is an imprinting disorder characterized by prenatal and postnatal growth retardation, relative macrocephaly, feeding difficulties and body asymmetry. Recently, upd(20)mat has been identified in few patients with SRS-like features, suggestive of a new imprinting disorder characterized by prenatal and postnatal growth failure. Here, we describe two male patients with upd(20) and...
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