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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Fig. 1

Pedigrees of three families with telomere biology disorders. The panel shows pedigrees of patients with telomere biology disorders (TBD). The original index cases are indicated as P1.1-P3. Solid symbols indicate affected patients, open symbols unaffected. For each family, the identified variants in TBD-associated genes are indicated by M. Normal alleles are listed as N

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172