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Article

Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.

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

Leon Eyby, Diaz Jullianne, Castilla-Vallmanya Laura, Grinberg Daniel, Balcells Susanna, Urreizti Roser

Abstract excerpt

Bohring-Opitz syndrome (BOS) has been described as a clinically recognizable genetic syndrome since 1999. Clinical diagnostic criteria were established in 2011 and include microcephaly, trigonocephaly, distinctive craniofacial dysmorphic features, facial nevus flammeus, failure to thrive, and severe developmental delays. The same year, different de novo heterozygous nonsense mutations in the ASXL1 were found in...

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PMID: 31692235
DOI: 10.1002/ajmg.a.61397

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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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