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Article

Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.

American journal of medical genetics. Part A - 1 Oct 2024

Abu-El-Haija Aya, Dillahunt Kyle, Safina Nicole, Aldeeri Abdulrahman, Glavan Tomislav, Mihalek Ivana, Shinawi Marwan

Abstract excerpt

Osteopathia Striata with Cranial Sclerosis (OSCS) is a rare genetic condition primarily characterized by metaphyseal striations of long bones, bone sclerosis, macrocephaly, and other congenital anomalies. It is caused by pathogenic variants in AMER1, a tumor suppressor and a WNT signaling repressor gene with key roles in tissue regeneration, neurodevelopment, tumorigenesis, and other developmental processes....

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Adaptor Proteins, Signal Transducing
Child
Genetic Predisposition to Disease
Neuroblastoma
Osteosclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tumor Suppressor Proteins

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Identifiers

PMID: 38801192
DOI: 10.1002/ajmg.a.63709

Genes

AMER1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.PMID 38801192Read ↗

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