Bohring–Opitz syndrome is a rare genetic condition characterized by distinctive facial
features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual …

Bohring–Opitz syndrome (BOS) is a rare genetic condition caused by pathogenic variants in
ASXL1, which is a gene involved in chromatin regulation. BOS is characterized by severe …

Bohring‐Opitz syndrome (BOS) is characterized clinically by severe developmental delays,
microcephaly, failure to thrive, and characteristic facial features (prominent eyes, facial …

Bohring–Opitz syndrome (BOS) is a rare condition characterized by facial anomalies,
multiple malformations, failure to thrive and severe intellectual disabilities. Recently, the …

Bohring–Opitz syndrome (BOS) was first described by Bohring et al.[1999]. The authors
reported four cases which had several features in common, including a prominent metopic …

The clinical interpretation of genetic variants has come to rely heavily on reference
population databases such as the Exome Aggregation Consortium (ExAC) database …

Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of
syndromic intellectual disability in four children with similar phenotypes using whole-exome …

Background Molecular diagnostics can resolve locus heterogeneity underlying clinical
phenotypes that may otherwise be co-assigned as a specific syndrome based on shared …

Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial
features and multiple congenital malformations. We sequenced the exomes of three …

Bainbridge–Ropers syndrome (BRPS) is characterized by severe developmental delay,
feeding problems, short stature, characteristic facal appearance including arched eyebrows …