A 649kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature

Title
A 649kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature
Authors
Keywords
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Journal
European Journal of Medical Genetics
Volume 52, Issue 2-3, Pages 116-119
Publisher
Elsevier BV
Online
2009-02-07
DOI
10.1016/j.ejmg.2009.01.005

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