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Cutis laxa, x-linked

Known as: EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY, Ehlers-Danlos syndrome, occipital horn type (formerly), Cutis laxa X-linked 
National Institutes of Health

Related topics

Related topics

18 relations
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Broader (2)

Cutis LaxaEhlers-Danlos Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Occipital horn syndrome in a woman: skeletal radiological findings
Ehlers–Danlos type IX syndrome, also called occipital horn syndrome (OHS), is a milder and rare form of Menkes disease where the… 
2006
2006
Pyrene-coumarin based calix fluorophore emitting exciplex
The chemistry of calixarenes, cyclic oligomers composed of phenolic and methylene moieties, has been extensively studied in… 
2005
2005
Synthesis and recommendations of the economic evaluation of OHS interventions at the company level conference.
Review
2003
Review
2003
Regulating safe design and planning of Construction Works: a review of strategies for regulating OHS in the design and planning of buildings, structures and other construction projects
2001
2001
Tetranuclear titanium 7,7'-modified binaphtholate cluster as a novel chiral Lewis acid catalyst.
Chiral tetranuclear Ti cluster, a cubic structure constituted of four Ti atoms and OHs, and six (R)-binaphthols (BINOL) bridged… 
1999
1999
Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants.
Menkes disease is an X-linked copper deficiency disorder that results from mutations in the ATP7A ( MNK ) gene. A wide range of… 
1998
1998
Dopamine beta-hydroxylase deficiency associated with mutations in a copper transporter gene.
1993
1993
Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX A first Japanese case
Review
1992
Review
1992
Occipital horn syndrome
Occipital horn syndrome, a rare genetic disorder of copper metabolism, was recognized in 2 unrelated patients. Radiographs of… 
1973
1973
A Phonological Study of Some English Loan Words in Japanese. Working Papers in Linguistics, No. 14, Studies in Phonology and Methodology.
. An adequate theory of phonology should be able to explain .the process of adaptation of foreign words into the native language… 
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