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Article

Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.

Cold Spring Harbor molecular case studies - 1 Jun 2019

Tootleman Eva, Malamut Barbara, Akshoomoff Natacha, Mattson Sarah N, Hoffman Hal M, Jones Marilyn C, Printz Beth, Shiryaev Sergey A, Grossfeld Paul

Abstract excerpt

Jacobsen syndrome (OMIM #147791) is a rare contiguous gene disorder caused by deletions in distal 11q. The clinical phenotype is variable and can include dysmorphic features, varying degrees of intellectual disability, behavioral problems including autism and attention deficit hyperactivity disorder, congenital heart defects, structural kidney defects, genitourinary problems, immunodeficiency, and a bleeding...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 31160359
DOI: 10.1101/mcs.a004010
PMCID: PMC6549550

Genes

ETS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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