Last Updated: 09/26/2026
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Found 4 publications
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.
Journal: American journal of human genetics
Published: February 26, 2026
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: January 24, 2024
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
Journal: European journal of human genetics : EJHG
Published: April 11, 2017
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Journal: American journal of human genetics
Published: April 27, 2016
Showing 1-4 of 4
Last Updated: 09/26/2026