Nablus mask-like facial syndrome
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Nablus mask-like facial syndrome (Nablus syndrome) is a rare (13 cases described by 2018) genetic condition.[1] It is a microdeletion syndrome triggered by a deletion at chromosome 8 q22.1 that causes a mask-like facial appearance in those affected.[2] This syndrome typically presents itself in infants, specifically newborns.[3]
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Nablus mask-like facial syndrome | |
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Other names | 8q22.1 microdeletion syndrome Nablus syndrome |
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