Molecular Characterisation of 36 Multilocus Imprinting Disturbance (MLID) Patients: a Comprehensive Approach.
CLINICAL EPIGENETICS(2023)
Key words
Beckwith–Wiedemann syndrome,Silver–Russell syndrome,Multilocus imprinting disturbances,Maternal effect variants,ImprintSeq,MS-MLPA,Whole-exome sequencing
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