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Fig. 7 | BMC Genomics

Fig. 7

From: Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency

Fig. 7

Model of the dominant nature of the impaired telomere maintenance in LARP7 mutant cohorts. In this model, the developmental defects associated with LARP7 deficiency are recessive, whereas the impaired telomere maintenance and inheritance of short telomeres can be transmitted even from heterozygous, overtly normal individuals. Thus the telomere length phenotype of LARP7 deficiency/Alazami syndrome displays a dominant inheritance modality with genetic anticipation in telomere shortening

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