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Dimitri, Paul et al. American Journal of Medical Genetics Part A.

Dimitri, Paul et al. American Journal of Medical Genetics Part A. 2016 May

Paul Dimitri and Meena Balasubramanian and colleagues report a study that describes the common facial dysmorphism consisting of bilateral low-set ears, depressed nasal bridge with overhanging columella, elongated, upslanted palpebral fissures, persistent long philtrum with a thin vermilion border of the upper lip in a cohort of seven patients with GLIS3 mutations. They reported the emergence of a distinct, probably recognizable facial gestalt in this group which evolves with age.



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PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague

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