Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2)
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DOI: 10.1002/mgg3.1932
Abstract: Schaaf‐Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein‐coding genes within the Prader‐Willi syndrome (PWS) critical domain. SYS… read more here.
Keywords: schaaf yang; melanoma antigen; antigen magel2; yang syndrome ... See more keywords
A retrospective analysis of growth hormone therapy in children with Schaaf–Yang syndrome
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DOI: 10.1111/cge.14000
Abstract: Short stature is a common phenotype in children with Schaaf–Yang syndrome (SYS). Prader–Willi syndrome (PWS) and SYS share several phenotypic features including short stature, muscular hypotonia and developmental delay/intellectual disability. Evidence exists that similar to… read more here.
Keywords: rhgh therapy; schaaf yang; children schaaf; therapy ... See more keywords
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
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DOI: 10.1136/jmg-2022-108690
Abstract: Background Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi syndrome. MAGEL2 plays a role in retrograde transport and… read more here.
Keywords: yang syndrome; pathophysiology; truncated magel2; schaaf yang ... See more keywords