Matches in DBpedia 2016-04 for { ?s ?p "Bohring–Opitz syndrome (BOS) is a medical syndrome characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs, abnormal posture, feeding difficulties, intellectual disability, small size at birth, and failure to thrive. Some of these features are shared with other genetic syndromes.Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of Bohring–Opitz syndrome cases.One infant was followed from birth, and became the oldest patient reported with Bohring–Opitz syndrome. Although this disease is often fatal in early childhood (mainly because of obstructive apnoea and unexplained bradycardia), this female patient received best available care and survived with significant psychomotor retardation to the age of 5 years 9 months at the time of the publication in 2009.Bohring–Opitz syndrome is sometimes also called Oberklaid–Danks syndrome."@en }
Showing triples 1 to 2 of
2
with 100 triples per page.
- Bohring–Opitz_syndrome abstract "Bohring–Opitz syndrome (BOS) is a medical syndrome characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs, abnormal posture, feeding difficulties, intellectual disability, small size at birth, and failure to thrive. Some of these features are shared with other genetic syndromes.Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of Bohring–Opitz syndrome cases.One infant was followed from birth, and became the oldest patient reported with Bohring–Opitz syndrome. Although this disease is often fatal in early childhood (mainly because of obstructive apnoea and unexplained bradycardia), this female patient received best available care and survived with significant psychomotor retardation to the age of 5 years 9 months at the time of the publication in 2009.Bohring–Opitz syndrome is sometimes also called Oberklaid–Danks syndrome.".
- Q4938225 abstract "Bohring–Opitz syndrome (BOS) is a medical syndrome characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs, abnormal posture, feeding difficulties, intellectual disability, small size at birth, and failure to thrive. Some of these features are shared with other genetic syndromes.Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of Bohring–Opitz syndrome cases.One infant was followed from birth, and became the oldest patient reported with Bohring–Opitz syndrome. Although this disease is often fatal in early childhood (mainly because of obstructive apnoea and unexplained bradycardia), this female patient received best available care and survived with significant psychomotor retardation to the age of 5 years 9 months at the time of the publication in 2009.Bohring–Opitz syndrome is sometimes also called Oberklaid–Danks syndrome.".