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A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
2012 - Forschungsinformationssystem des UKE
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
2012 - Forschungsinformationssystem des UKE
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
2011 - Forschungsinformationssystem des UKE