Expansion of the ophthalmic phenotype of SPINT2 ‐related syndromic congenital sodium diarrhea-Reference-Cited by-同舟云学术

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Expansion of the ophthalmic phenotype of SPINT2 ‐related syndromic congenital sodium diarrhea

Published:2021-02-05 Issue:4 Volume:185 Page:1270-1274
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ernst Julia¹²³^ORCID,Hiasat Jamila¹²,Alabek Michelle L.¹²,Scanga Hannah L.¹²,Motley William⁴,Nischal Ken K.¹²⁵

Affiliation:

1. Eye Center UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania USA

2. The Division of Pediatric Ophthalmology, Strabismus and Adult Motility UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania USA

3. Medical University of Warsaw Warsaw Poland

4. Division of Pediatric Ophthalmology Cincinnati Children's Hospital Cincinnati Ohio USA

5. School of Medicine University of Pittsburgh Pittsburgh Pennsylvania USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62094

Reference19 articles.

1. Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome

2. Ibuprofen regulates the expression and function of membrane-associated serine proteases prostasin and matriptase

3. Genetic analysis of Italian patients with congenital tufting enteropathy

4. Optical Coherence Tomography Findings in Recurrent Corneal Erosion Syndrome

5. Meesmann's corneal dystrophy managed with an epithelial delaminator

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