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Article

Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.

American journal of medical genetics. Part A - 1 Feb 2017

Cianci Paola, Fazio Grazia, Casagranda Sara, Spinelli Marco, Rizzari Carmelo, Cazzaniga Gianni, Selicorni Angelo

Abstract excerpt

Baraitser-Winter malformation syndrome (BWMS), Fryns-Aftimos syndrome (FA), and craniofrontofacial syndromes (CFFs) have all been recently proposed to be part of the same phenotypic spectrum of Baraitser-Winter cerebrofrontofacial syndrome (BWCFF), which is characterized by facial dysmorphism, ocular coloboma, brain malformations, and intellectual disabilities. In addition to that, the recent discovery of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27868373
DOI: 10.1002/ajmg.a.38057

Genes

ACTB
ACTG1

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.

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