Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32576/fullpdf
Reference34 articles.
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3. The ciliopathies: An emerging class of human genetic disorders;Badano;Annu Rev Genom Hum Genet,2006
4. Rod-cone dystrophy, sensorineural deafness, and renal dysfunction: An autosomal recessive syndrome?;Beighton;Am J Med Genet,1993
5. Retinal degeneration in hereditary ataxia;Bjork;J Neurol Neurosurg Psychiatry,1956
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1. Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy;The American Journal of Human Genetics;2014-01
2. Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy;The American Journal of Human Genetics;2014-01
3. Axial spondylometaphyseal dysplasia: Additional reports;American Journal of Medical Genetics Part A;2011-09-09
4. Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities;The Journal of Pathology;2011-07-25
5. Spondylometaphyseal dysplasia with cone-rod dystrophy;American Journal of Medical Genetics Part A;2011-03-15
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