Sentences with phrase «dysmorphic features»
The phrase "dysmorphic features" refers to physical characteristics or features that are different from what is typically seen as normal. Full definition
The two families had distinct facial dysmorphic features that led Karaca to identify the gene in three additional families with very similar features.
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We subsequently performed a first clinical genetic evaluation of the mother, where a mild Crouzon syndrome - like phenotype was noted, with mild dysmorphic features and irregular head shape.
The authors unveil a novel mouse model of chromosome Xq22.1 deletion syndrome, a human disease characterized by developmental delay, intellectual disability, epilepsy, dysmorphic features, and an X-linked pattern of inheritance.
«I believe an international approach to dysmorphology has contributed to the progress that has been made so far, in both delineating the dysmorphic features and subsequently explaining the genetic mechanisms.»
Haploinsufficiency of the E3 ubiquitin - protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.