Condition: Thick lower lip vermilion


rs387907144 in ARID1B gene and Thick lower lip vermilion PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs782736894 in BPTF gene and Thick lower lip vermilion PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.