7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
15 citations
,
April 2024 in “Animals” Inner Mongolia cashmere goats have the lowest inbreeding, aiding future breeding and conservation.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
412 citations
,
January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.