Condition: Growth Deficiency and Mental Retardation with Facial Dysmorphism


rs1057518074 in KMT2A gene and Growth Deficiency and Mental Retardation with Facial Dysmorphism PMID 27441994 2017 Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.