Condition: Woodhouse Sakati syndrome


rs780493577 in DCAF17 gene and Woodhouse Sakati syndrome PMID 20507343 2010 C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

PMID 19026396 2008 Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 26612766 2016 Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.