MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.

scientific article published on 9 July 2009

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.EJMG.2009.07.001
P698PubMed publication ID19596467
P5875ResearchGate publication ID26665179

P50authorChong Ae KimQ40388281
Débora R BertolaQ51915156
P2093author name stringFernando Kok
Célia P Koiffmann
Lílian Albano
Claudia Fagali
Pablo Nicola
P433issue5
P921main subjectSotos syndromeQ1770836
P304page(s)333-336
P577publication date2009-07-09
P1433published inEuropean Journal of Medical GeneticsQ15817083
P1476titleMLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
P478volume52

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cites work (P2860)
Q35204410Clinical and molecular heterogeneity in brazilian patients with sotos syndrome
Q37992686Commonest overgrowth syndromes
Q84371992Deletion of NSD1 exon 14 in Sotos syndrome: first description
Q49270535Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
Q37449698Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.
Q37704614The clinical context of copy number variation in the human genome