Fig. 1From: Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigreeFamily pedigree. The proband is noted by an arrow. Family members for which DNA was available for testing are noted by a horizontal line above the individual’s symbol. Proband’s DNA was used for exome sequencing. Sanger sequencing chromatograms show that patients are homozygous while the parents and non-affected sibling are heterozygousBack to article page