Articles with "phenotype morbidity" as a keyword



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Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome

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Published in 2023 at "Human Mutation"

DOI: 10.1155/2023/8200176

Abstract: Characterized by developmental delay with severe speech delay, dental anomalies, cleft palate, skeletal abnormalities, and behavioral difficulties, SATB2-associated syndrome (SAS) is caused by pathogenic variants in SATB2. The SAS phenotype range of severity has been… read more here.

Keywords: phenotype; satb2 associated; associated syndrome; quantitative phenotype ... See more keywords