Condition: Flatfoot


rs1555743003 in ASXL3 gene and Flatfoot PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

rs1555652383 in BPTF gene and Flatfoot PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1057524157 in DEAF1 gene and Flatfoot PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.