First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers

Detalles Bibliográficos
Autores principales: Bittmann, Stefan, Luchter, Elisabeth, Villalon, Gloria, Moschuring-Alieva, Elena, Bittmann, Lara, Weissenstein, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2022
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9076138/
https://www.ncbi.nlm.nih.gov/pubmed/35573931
http://dx.doi.org/10.14740/jocmr4709
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author Bittmann, Stefan
Luchter, Elisabeth
Villalon, Gloria
Moschuring-Alieva, Elena
Bittmann, Lara
Weissenstein, Anne
author_facet Bittmann, Stefan
Luchter, Elisabeth
Villalon, Gloria
Moschuring-Alieva, Elena
Bittmann, Lara
Weissenstein, Anne
author_sort Bittmann, Stefan
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spelling pubmed-90761382022-05-12 First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers Bittmann, Stefan Luchter, Elisabeth Villalon, Gloria Moschuring-Alieva, Elena Bittmann, Lara Weissenstein, Anne J Clin Med Res Letter to the Editor Elmer Press 2022-04 2022-04-12 /pmc/articles/PMC9076138/ /pubmed/35573931 http://dx.doi.org/10.14740/jocmr4709 Text en Copyright 2022, Bittmann et al. https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Non-Commercial 4.0 International License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Letter to the Editor
Bittmann, Stefan
Luchter, Elisabeth
Villalon, Gloria
Moschuring-Alieva, Elena
Bittmann, Lara
Weissenstein, Anne
First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers
title First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers
title_full First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers
title_fullStr First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers
title_full_unstemmed First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers
title_short First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers
title_sort first pediatric case of autosomal recessive homozygotic bestrophinopathy due to homozygous mutation c.187g>c p. in two brothers
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9076138/
https://www.ncbi.nlm.nih.gov/pubmed/35573931
http://dx.doi.org/10.14740/jocmr4709
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