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