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A 649kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature |
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Title: |
A 649kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature |
Author: |
Hanemaaijer, Nicolien Dijkhuizen, Trijnie Haadsma, Maaike Boeve, Margot Boon, Maartje Hordijk, Roel Kok, Klaas Sikkema-Raddatz, Birgit van Ravenswaaij-Arts, Conny M.A. |
Appeared in: |
European journal of medical genetics |
Paging: |
Volume 52 (2009) nr. 2-3 pages 4 p. |
Year: |
2009 |
Contents: |
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Publisher: |
Elsevier Masson SAS |
Source file: |
Elektronische Wetenschappelijke Tijdschriften |
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