Article
Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality.
American journal of medical genetics. Part A - 1 Aug 2011
Nicoulaz A, Rubi F, Lieder L, Wolf R, Goeggel-Simonetti B, Steinlin M, Wiest R, Bonel H M, Schaller A, Gallati S, Conrad B
Abstract excerpt
Monosomy 1p36 results from heterozygous deletions of the terminal short chromosome 1 arm, the most common terminal deletion in humans. The microdeletion is split in two usually non-overlapping and clinically distinct classical distal and proximal 1p36 monosomy syndromes. Using comparative genome...
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