Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome-Reference-Cited by-同舟云学术

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome

Author:

Acharya Tanvi¹^ORCID,Firth Helen V.²,Dugar Shilpa³,Grammatikopoulos Tassos³,Seabra Luis⁴,Walters Angharad⁵,Crow Yanick J.⁶,Parker Alasdair P. J.¹

Affiliation:

1. School of Clinical Medicine Cambridge University Cambridge UK

2. Department of Clinical Genetics Addenbrooke’s Hospital Cambridge UK

3. Paediatric Liver, GI and Nutrition Centre and Mowat Labs King’s College Hospital NHS Foundation Trust London UK

4. Laboratory of Neurogenetics and NeuroinflammationInstitut Imagine Paris France

5. Cambridgeshire Community ServicesBrooksfield Hospital Cambridge UK

6. Centre for Genomic and Experimental Medicine MRC Institute of Genetics and Molecular Medicine University of Edinburgh Edinburgh UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

Reference14 articles.

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