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.