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

A familial SAMD9 variant present in pediatric myelodysplastic syndrome.

Cold Spring Harbor molecular case studies - 1 Apr 2023

Rahim Mahvish Q, Rahrig April, Overholt Kathleen, Conboy Erin, Czader Magdalena, Saraf Amanda June

Abstract excerpt

Myelodysplastic syndrome (MDS) is a rare pediatric diagnosis characterized by ineffective hematopoiesis with potential to evolve into acute myelogenous leukemia (AML). In this report, we describe a unique case of a 17-yr-old female with an aggressive course of MDS with excess blasts who was found to have monosomy 7 and a SAMD9 germline variant, which has not previously been associated with a MDS phenotype. This...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Intracellular Signaling Peptides and Proteins

Share to Myelodysplastic Syndromes

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 37160314
DOI: 10.1101/mcs.a006256
PMCID: PMC10240840

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A familial SAMD9 variant present in pediatric myelodysplastic syndrome.PMID 37160314Read ↗

Germline and somatic genetic landscape of pediatric myelodysplastic syndromesSemantic proximity Read ↗

Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndromeSemantic proximity Read ↗

The genomic landscape of pediatric myelodysplastic syndromes.Semantic proximity Read ↗

Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.Semantic proximity Read ↗

Pediatric Myelodysplastic Syndromes.Semantic proximity Read ↗

Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndromeSemantic proximity Read ↗

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7Semantic proximity Read ↗

Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromesSemantic proximity Read ↗

Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7Semantic proximity Read ↗

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.Semantic proximity Read ↗

Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.Semantic proximity Read ↗

The Genomic Landscape of Pediatric Myelodysplastic SyndromesSemantic proximity Read ↗

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