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Article

Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.

American journal of medical genetics. Part A - 1 Jul 2020

Alkhunaizi Ebba, Unger Sharon, Shannon Patrick, Nishimura Gen, Blaser Susan, Chitayat David

Abstract excerpt

Our improved tools to identify the aetiologies in patients with multiple abnormalities resulted in the finding that some patients have more than a single genetic condition and that some of the diagnoses made in the past are acquired rather than inherited. However, limited knowledge has been accumulated regarding the phenotypic outcome of the interaction between different genetic conditions identified in the same...

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PMID: 32506814
DOI: 10.1002/ajmg.a.61621

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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