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Rigshospitalet - a part of Copenhagen University Hospital
Published

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

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  1. A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics

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  2. Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene

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  3. Monozygotic twins presenting with isolated sagittal and bicoronal synostosis, respectively

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  4. Familial craniosynostosis associated with a microdeletion involving the NFIA gene

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  5. Facial asymmetry associated with small and large intestinal atresia, and ipsilateral malformations of eye, skin, and extremities

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  1. Phenotypic variability in Muenke syndrome-observations from five Danish families

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  2. Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

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  3. Dynamic soft tissue changes in the orbit after a blowout fracture

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  4. Primary failure of eruption of teeth in two siblings with a novel mutation in the PTH1R gene

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Original languageEnglish
JournalClinical Dysmorphology
Volume28
Issue number1
Pages (from-to)41-45
Number of pages5
ISSN0962-8827
DOIs
Publication statusPublished - Jan 2019

ID: 56073999