Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33397/fullpdf
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2. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III;Dagoneau;Am J Hum Genet,2009
3. Axial spondylometaphyseal dysplasia;Ehara;Eur J Pediatr,1997
4. A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa;Megarbane;Am J Med Genet Part A,2004
5. A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement;Megarbane;Am J Med Genet Part A,2006
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1. C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases;Clinical Case Reports;2023-03
2. A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants;Ophthalmic Genetics;2022-11-07
3. Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy;Journal of Medical Genetics;2017-11-09
4. Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations;Journal of Human Genetics;2017-01-26
5. Retinal dystrophies with systemic associations and the retinal ciliopathies;Taylor and Hoyt's Pediatric Ophthalmology and Strabismus;2017
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