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Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing

Gene

Jun 11, 2014

Byung Chan LimKi Joong Kim

Abstract

Hoyeraal-Hreidarsson syndrome is a severe multisystem disorder that is characterized by bone-marrow failure, intrauterine growth retardation, microcephaly, immunodeficiency, and cerebellar atrophy. This rare disease shares clinical features with dyskeratosis congenita and, together, the...read more

Mentioned in this Paper

DKC1 gene
NHP2 gene
NOP10 gene
DCLRE1B gene
TINF2 protein, human
Profound Mental Retardation
Immunologic Deficiency Syndromes
Dideoxy Chain Termination DNA Sequencing
Dystrophia Unguium
RTEL1 gene
3
35
1
Paper Details
References

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Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing

Gene

Jun 11, 2014

Byung Chan LimKi Joong Kim

PMID: 24914498

DOI: 10.1016/j.gene.2014.06.011

Abstract

Hoyeraal-Hreidarsson syndrome is a severe multisystem disorder that is characterized by bone-marrow failure, intrauterine growth retardation, microcephaly, immunodeficiency, and cerebellar atrophy. This rare disease shares clinical features with dyskeratosis congenita and, together, the...read more

Mentioned in this Paper

DKC1 gene
NHP2 gene
NOP10 gene
DCLRE1B gene
TINF2 protein, human
Profound Mental Retardation
Immunologic Deficiency Syndromes
Dideoxy Chain Termination DNA Sequencing
Dystrophia Unguium
RTEL1 gene
3
35
1

Similar Papers Found In These Feeds

Paper Details
References
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