We report a two-generation family with four females harboring an 8.5Mb heterozygous deletion of 5q15-q21.2 who present with dysmorphic craniofacial features and speech delay. We hypothesize haploinsufficiency of to be contributing to the clinical features observed in this family.
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| http://dx.doi.org/10.1002/ccr3.2186 | DOI Listing |
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