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- Q4938225 subject Q7031586.
- 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.".
- Q4938225 omim "605039".
- Q4938225 wikiPageWikiLink Q1480291.
- Q4938225 wikiPageWikiLink Q1497481.
- Q4938225 wikiPageWikiLink Q17083186.
- Q4938225 wikiPageWikiLink Q179630.
- Q4938225 wikiPageWikiLink Q18052988.
- Q4938225 wikiPageWikiLink Q183560.
- Q4938225 wikiPageWikiLink Q200779.
- Q4938225 wikiPageWikiLink Q217111.
- Q4938225 wikiPageWikiLink Q3064951.
- Q4938225 wikiPageWikiLink Q42918.
- Q4938225 wikiPageWikiLink Q5182134.
- Q4938225 wikiPageWikiLink Q5441238.
- Q4938225 wikiPageWikiLink Q6692979.
- Q4938225 wikiPageWikiLink Q7031586.
- Q4938225 name "Bohring–Opitz syndrome".
- Q4938225 omim "605039".
- Q4938225 type Disease.
- Q4938225 type Thing.
- Q4938225 type Q12136.
- Q4938225 comment "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.".
- Q4938225 label "Bohring–Opitz syndrome".
- Q4938225 name "Bohring–Opitz syndrome".