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De novo interstitial deletion of 1q32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features
Salahshourifar I, Halim AS, Sulaiman WA, Ariffin R,
Naili Muhamad Nor N
, Zilfalil BA
Cytogenet Genome Res
, 2011;134(2):83-7.
PMID: 21447942
DOI:
10.1159/000325541
Abstract
Microdeletion of the Van der Woude syndrome (VWS) critical region is a relatively rare event, and only a few cases have been reported in the medical literature. The extent of the deletion and the genotype-phenotype correlation are 2 crucial issues.
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