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Article

Wilms tumor in patients with osteopathia striata with cranial sclerosis.

European journal of human genetics : EJHG - 1 Mar 2021

Bach Alicia, Mi Jingyi, Hunter Matthew, Halliday Benjamin J, García-Miñaúr Sixto, Sperotto Francesca, Trevisson Eva, Markie David, Morison Ian M, Shinawi Marwan, Willis Daniel N, Robertson Stephen P

Abstract excerpt

Germline pathogenic variants in AMER1 cause osteopathia striata with cranial sclerosis (OSCS: OMIM 300373), an X-linked sclerosing bone disorder. Female heterozygotes exhibit metaphyseal striations in long bones, macrocephaly, cleft palate, and, occasionally, learning disability. Male hemizygotes typically manifest the condition as fetal or neonatal death. Somatically acquired variants in AMER1 are found in...

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

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Identifiers

PMID: 32879452
DOI: 10.1038/s41431-020-00718-4
PMCID: PMC7940487

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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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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