Associated Papers
Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.
Hong YJ et al.
Journal of Clinical Laboratory Analysis, 2025
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.
Urreizti R et al.
Scientific Reports, 2018
29330474 (PubMed )
Supplement: 41598_2017_19109_MOESM1_ESM.pdf
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti R et al.
Scientific Reports, 2017
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