Condition: Pointed chin


rs1561875767 in CUL7;KLC4 gene and Pointed chin PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs587777893 in MTOR gene and Pointed chin PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs1057516048 in NSD1 gene and Pointed chin PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1559155954 in OBSL1 gene and Pointed chin PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.