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Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden
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. AD, autosomal dominant; AR, autosomal recessive; BWS, Beckwith–Wiedemann syndrome; GH, growth hormone; MLPA, multiplex ligation-dependent probe amplification; MS-MLPA, methylation-specific MLPA; NS, Noonan syndrome; SGA, small for gestational age; SNP
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syndromic CPP that was associated with multiple abnormalities ( 28 ). This subgroup underwent methylation analysis of candidate regions, chromosomal microarray analysis and, in a small subset, whole-exome sequencing. Rare genetic abnormalities, including