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Article

Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.

Pediatric blood & cancer - 1 Sept 2016

Moriya Kunihiko, Niizuma Hidetaka, Rikiishi Takeshi, Yamaguchi Hiroki, Sasahara Yoji, Kure Shigeo

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27128385
DOI: 10.1002/pbc.26030

Genes

RTEL1

Provenance

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Related research

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Research trail→

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Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.PMID 27128385Read ↗

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Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome.Semantic proximity Read ↗

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