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Article

A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.

American journal of medical genetics. Part A - 1 Oct 2013

Sekiguchi Kazuhito, Maeda Tomoki, Suenobu So-ichi, Kunisaki Nobutaka, Shimizu Miki, Kiyota Kyoko, Handa Yo-suke, Akiyoshi Kensuke, Korematsu Seigo, Aoki Yoko, Matsubara Yoichi, Izumi Tatsuro

Abstract excerpt

A male infant, born at 32 weeks gestation by cesarean because of hydrops fetalis, presented with multiple anomalies, such as sparse and curly scalp hair, absent eyebrows, frontal bossing, an atrial septal defect, pulmonary artery stenosis, and whole myocardial thickening. He was clinically diagnosed with cardio-facio-cutaneous (CFC) syndrome, and was confirmed to have a germline V-raf murine sarcoma viral...

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Identifiers

PMID: 23950000
DOI: 10.1002/ajmg.a.36107

Genes

BRAF

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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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A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.PMID 23950000Read ↗

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