Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts.

Blood - 28 Nov 2013

Alsultan Abdulrahman, Shamseldin Hanan E, Osman Mohamed Elfaki, Aljabri Mansour, Alkuraya Fowzan S

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anemia
Share to Anemia, Aplastic
Share to Blood Transfusion
Share to Bone Marrow Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone Marrow Failure Disorders

Share to Hemoglobinuria, Paroxysmal

Share to Leukopenia

Share to Ubiquitin-Specific Proteases

Source

Identifiers

PMID: 24288411
DOI: 10.1182/blood-2013-09-527127

Genes

MYSM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts.PMID 24288411Read ↗

A novel compound heterozygous mutation of MYSM1 gene in a patient with bone marrow failure syndrome 4.Semantic proximity Read ↗

[A novel compound heterozygous mutation in MYSM1 gene in a 1-month-old girl: a bone marrow failure syndrome 4 family survey and literature review].Semantic proximity Read ↗

Further delineation of bone marrow failure syndrome caused by novel compound heterozygous variants of MYSM1.Semantic proximity Read ↗

Unusual phenotype of heterozygous LOF mutation in IKZF1, with common variable immunodeficiency presenting initially as immune thrombocytopenia: A case report.Semantic proximity Read ↗

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.Semantic proximity Read ↗

A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia.Semantic proximity Read ↗

Congenital dyserythropoietic anemia type I mimicking myelodysplasia syndrome with a novel CDAN1 mutation.Semantic proximity Read ↗

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.Semantic proximity Read ↗

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.Semantic proximity Read ↗

TINF2 mutations in children with severe aplastic anemia.Semantic proximity Read ↗

Germline ETV6 mutations and predisposition to hematological malignancies.Semantic proximity Read ↗

KANK1, a candidate tumor suppressor gene, is fused to PDGFRB in an imatinib-responsive myeloid neoplasm with severe thrombocythemiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.