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Journal Article

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndrome

DORA STEEL; VINCENZO SALPIETRO; RAHUL PHADKE; MATTHEW PITT; GIULIA GENTILE; AHMED MASSOUD; LEIGH BATTEN; ANU BASHAMBOO; KEN MCELREAVEY; ANAND SAGGAR; MARIA KINALI
Journal of Genetics · Vol. 94, Issue 4 · pp. 755-758 · 2015

Abstract

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Bibliographic Information

JournalJournal of Genetics
PublisherSpringer
Publication Date2015-12-01
Publication Year2015
Volume94
Issue4
Pages755-758
Document TypeJournal Article
eISSN0973-7731
DOI10.1007/s12041-015-0578-x

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NARA Access Coverage1910-01-01~Current
Journal Homepagehttps://www.springer.com/journal/12041
Publisher PageOpen Publisher Page
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