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216:"Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis"
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Magini P; Della Monica M; Uzielli ML; et al. (2012). "Two novel patients with
Bohring–Opitz syndrome caused by de novo
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have been shown to account for approximately 50% of
Bohring–Opitz syndrome cases.
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A second gene associated with this condition is the Kelch-like family member 7 (
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The syndrome is extremely rare, with fewer than 80 reported cases worldwide.
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Hoischen A; van Bon BW; Rodríguez-Santiago B; et al. (2011). "
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Hastings R; Cobben JM; Gillessen-Kaesbach G; et al. (2011).
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103:This condition is characterised by characteristic
181:As some of these features are shared with other
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320:American Journal of Medical Genetics Part A
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150:, brain abnormalities, and other issues.
130:Children with BOS can also have recurring
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484:Syndromes with craniofacial abnormalities
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30:Oberklaid–Danks syndrome, C-like syndrome
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489:Syndromes with intellectual disability
111:of the upper limbs, abnormal posture,
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146:, abnormal hair density and length,
432:. You can help Knowledge (XXG) by
220:European Journal of Human Genetics
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64:, lung infections, heart problems
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271:cause Bohring-Opitz syndrome".
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160:de novo truncating mutations
89:caused by a mutation in the
185:, the diagnosis is made by
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117:intellectual disability
494:Genetic disorder stubs
479:Rare genetic syndromes
267:nonsense mutations in
132:respiratory infections
79:Bohring–Opitz syndrome
22:Bohring–Opitz syndrome
232:10.1038/ejhg.2010.234
332:10.1002/ajmg.a.35265
113:feeding difficulties
144:developmental delay
121:small size at birth
60:obstructive apnea,
107:appearance, fixed
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183:genetic syndromes
125:failure to thrive
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16:Medical condition
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41:Medical genetics
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367:Classification
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326:(4): 917–921.
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158:Genetically,
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109:contractures
105:craniofacial
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140:sleep apnea
69:Usual onset
62:Wilms tumor
27:Other names
473:Categories
201:References
136:aspiration
72:Congenital
177:Diagnosis
134:, silent
36:Specialty
348:44412661
340:22419483
301:10367717
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154:Genetics
87:syndrome
397:C537419
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344:S2CID
316:ASXL1
297:S2CID
269:ASXL1
171:KLHL7
164:ASXL1
92:ASXL1
430:stub
392:MeSH
381:OMIM
336:PMID
324:158A
289:PMID
246:PMID
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