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Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation

Crossref DOI link: https://doi.org/10.1038/s41525-026-00587-8

Published Online: 2026-06-09

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

García-de-Teresa, Benilde

Zhao, Tianna

Salas-Labadía, Consuelo

Fiesco-Roa, Moisés

Zhou, Weiyin

Sánchez, Silvia

Juárez-Figueroa, Ulises

Molina, Bertha

Torres, Leda

Caylor, Raymond

Wang, Difei

Highfill, Chad A.

Rafati, Maryam

Liu, Jia

Zeigler, Logan P.

Monsivais, Angélica

Lieberman, Esther

Orozco-Covarrubias, María de la Luz

Rojas, Mauricio

Altintas, Burak

Giri, Neelam

Jones, Kristine M.

Jain, Komal

McReynolds, Lisa J.

Hicks, Belynda

Frías, Sara

Savage, Sharon A.
Funding

Funding for this research was provided by:

FOSISS/CONACyT SALUD (17-01-289930-01-008)

Intramural Research Program, National Cancer Institute (Z01 CP010144)
License Information

Text and Data Mining valid from 2026-06-09

Accepted Manuscript valid from 2026-06-09
More Information

Article History

Received: 15 December 2025

Accepted: 26 May 2026

First Online: 9 June 2026

Competing interests

: The authors declare no competing interests.

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