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Nager syndrome

Known as: MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, WITH LIMB ANOMALIES, Acrofacial dysostosis, Nager type, Preaxial Mandibulofacial Dysostosis 
National Institutes of Health

Related topics

Related topics

40 relations
Accessory tragusAqueductal StenosisAtresia of the external auditory canalAutosomal dominant inheritance

Broader (1)

Mandibulofacial Dysostosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype
Heterozygous mutations in the EFTUD2 were identified in 12 individuals with a rare sporadic craniofacial condition termed… 
Review
2009
Review
2009
Ellis–van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia‐mediated diminished response to hedgehog ligands
Ellis–van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia… 
Highly Cited
2008
Highly Cited
2008
Bidirectional temperature-sensing by a single thermosensory neuron in C. elegans
Humans and other animals can sense temperature changes as small as 0.1 °C. How animals achieve such exquisite sensitivity is… 
Highly Cited
2000
Highly Cited
2000
Determinants of local recruitment in a growing colony of Audouin's gull
1. Local recruitment of Audouin's gull (Larus audouinii Payraudeau) was studied between 1988 and 1997 at the Ebro Delta colony… 
Highly Cited
1998
Highly Cited
1998
Swim speeds and energy use of upriver-migrating sockeye salmon (Oncorhynchus nerka): role of local environment and fish characteristics
We used electromyogram (EMG) radiotelemetry to assess swimming activity (e.g., swim speeds), behaviour, and migration speeds (e.g… 
Review
1996
Review
1996
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.
To further delineate and classify those forms of short trunk dwarfism characterized by multiple vertebral segmentation defects… 
Highly Cited
1989
Highly Cited
1989
A method for safe twelve-hour pulmonary preservation.
Highly Cited
1987
Highly Cited
1987
Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis.
Acute exposure to 400 mg/kg 13-cis retinoic acid (13-cis RA, isotretinoin, Accutane) on the ninth day postfertilization in mice… 
Review
1974
Review
1974
Cleidocranial dysostosis. A review of 40 new cases.
Highly Cited
1949
Highly Cited
1949
The mandibulofacial dysostosis; a new hereditary syndrome.
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