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Author

B. Pode-Shakked

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Case report Aug 2026

Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

The clinical and genetic spectrum of TERT-associated DC is expanded and the critical role of genomic diagnostics and telomere assessment in BMFs is illustrated to illustrate the critical role of genomic diagnostics and telomere assessment in telomere biology disorders.

I. Somekh, A. Mandola, Shirly Frizinsky et al. · 0 citations
Case report Open access Jul 2026

Further Support for Association of DAND5 with Autosomal Recessive Laterality Disorders

These findings further support biallelic loss of function variants in DAND5 autosomal recessive laterality defects and suggest DAND5 has recently been suggested as a candidate gene in heterotaxy and CHDs.

O. Chorin, Yoav Bolkier, Uriel Katz et al. · 0 citations

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