Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort-Reference-Cited by-同舟云学术

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort

Author:

Prasov Lev¹²³,Ullah Ehsan¹,Turriff Amy E.¹,Warner Blake M.⁴,Conley Julie⁵,Mark Paul R.⁶,Hufnagel Robert B.¹,Huryn Laryssa A.¹^ORCID

Affiliation:

1. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health Bethesda Maryland

2. Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye CenterUniversity of Michigan Ann Arbor Michigan

3. Department of Human GeneticsUniversity of Michigan Ann Arbor Michigan

4. National Institute of Dental and Craniofacial Research, National Institutes of Health Bethesda Maryland

5. Section of Pediatric Ophthalmology, Helen DeVos Children's Hospital Grand Rapids Michigan

6. Spectrum Health Division of Medical Genetics Grand Rapids Michigan

Funder

NEI Intramural Research Grant

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference13 articles.

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