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Paper Details

Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndrome.
J Med Genet
8
2022
CSS, Coffin-Siris (CSS) syndromes, HMG, HMG-domain, HMG-domain missense variants, L/PV, Patients, SOX4, VUS, cardiovascular, ophthalmological, musculoskeletal or other, dysmorphic features, haploinsufficiency, high-mobility-group, neurodevelopmental, neurodevelopmental diseases, neurodevelopmental syndrome, patients, somatic anomaly, stop-gain variants
Author NameAffiliation
Elaine H ZackaiThe Children's Hospital of Philadelphia
Anna C E HurstThe University of Alabama at Birmingham School of Medicine
Jennifer FriedmanUniversity of California San Diego
Jennifer FriedmanDivision of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital
Jennifer FriedmanUniversity of California San Diego
Jennifer FriedmanRady Children's Hospital
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