PMC4256837_01
PMC4256837_02
Patient images. Facial anomalies limited to slight frontal bossing, deeply set eyes, long nose with a bulbous tip, large protruding ears, and long eyelashes and clinodactyly.
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PMC4256837_02_13039_2014_85_Fig1_HTML.jpg
Fig1
Facial features included slight frontal bossing, deeply set eyes, long nose with a bulbous tip, large protruding ears, and long eyelashes (Figure 1).
Chromosome and aCGH findings. A: chromosome analysis; B: Array-CGH profile of chromosome 2; C: OMIM morbid genes within the deletion regions.
13039_2014_85_Fig2_HTML.jpg
PMC4256837_04_13039_2014_85_Fig2_HTML.jpg
Fig2
The currently described deletion involves more than 88 UCSC genes, 38 of which are OMIM genes and seven of which are OMIM morbid (Figure 2C).
PMC4256837_03
PMC4256837_04
Chromosome and aCGH findings. A: chromosome analysis; B: Array-CGH profile of chromosome 2; C: OMIM morbid genes within the deletion regions.
13039_2014_85_Fig2_HTML.jpg
PMC4256837_04_13039_2014_85_Fig2_HTML.jpg
Fig2
The currently described deletion involves more than 88 UCSC genes, 38 of which are OMIM genes and seven of which are OMIM morbid (Figure 2C).
PMC4256837_05
PMC4256837_06
PMC4256837_07