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Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

Blood - 16 Mar 2017

Dhanraj Santhosh, Matveev Anna, Li Hongbing, Lauhasurayotin Supanun, Jardine Lawrence, Cada Michaela, Zlateska Bozana, Tailor Chetankumar S, Zhou Joseph, Mendoza-Londono Roberto, Vincent Ajoy, Durie Peter R, Scherer Stephen W, Rommens Johanna M, Heon Elise, Dror Yigal

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Source

Identifiers

PMID: 28062395
DOI: 10.1182/blood-2016-08-735431

Genes

DNAJC21

Provenance

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Related research

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Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.PMID 28062395Read ↗

Whole exome sequencing discloses heterozygous variants in the DNAJC 21 and EFL 1 genes but not in SRP 54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutationsSemantic proximity Read ↗

Shwachman-Diamond Syndrome: Molecular Mechanisms and Current PerspectivesSemantic proximity Read ↗

Refining the phenotype associated with biallelic DNAJC21 mutations.Semantic proximity Read ↗

Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond SyndromeSemantic proximity Read ↗

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.Semantic proximity Read ↗

Molecular characterization of a Portuguese patient with Shwachman-Diamond syndrome.Semantic proximity Read ↗

Hematologically important mutations: Shwachman-Diamond syndrome.Semantic proximity Read ↗

Shwachman Diamond syndrome-phenotypes and genotypes: when clinical research informs biology.Semantic proximity Read ↗

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DNAJC21-related thrombocytopenia in a young adult female.Semantic proximity Read ↗

Mitotic abnormalities and spindle assembly checkpoint inactivation in a cell model of Shwachman-Diamond syndrome with mutations in the Shwachman-Bodian-Diamond syndrome gene, 258+2T > C.Semantic proximity Read ↗

Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis.Semantic proximity Read ↗

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