Condition: Pili torti-deafness syndrome


rs121908577 in BCS1L gene and Pili torti-deafness syndrome PMID 24172246 2013 Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 19389488 2009 Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

rs121908579 in ZNF142;BCS1L gene and Pili torti-deafness syndrome PMID 24172246 2013 Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.