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Archivos Argentinos De Pediatria|January 19, 2017
[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]Michele Callea, Francisco Cammarata-Scalisi, Colin E Willoughby, et al.
Journal of Human Genetics|May 29, 2015
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sitesLetizia Straniero, Valeria Rimoldi, Giulia Soldà, et al.
Ophthalmic Genetics|March 5, 2025
Genotype-phenotype relationship in RDH12 retinopathy: a perspective from a pediatric age groupGiacomo Maria Bacci, Pina Fortunato, Silvia Cestaro, et al.
Endocrine Connections|August 30, 2024
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literatureAlessandro Barbato, Giulia Gori, Michele Sacchini, et al.
Journal of Clinical Medicine|July 28, 2026
CDH3 Retinopathy: Long-Term Multimodal Follow-Up with Pediatric Multidisciplinary InsightsElisa Marziali, Chiavetta Elia, Sara Bargiacchi, et al.
Orphanet Journal of Rare Diseases|July 31, 2023
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practiceVittoria Murro, Sandro Banfi, Francesco Testa, et al.
Scientific Reports|July 4, 2024
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insightsGiacomo M Bacci, Elisa Marziali, Sara Bargiacchi, et al.
Ophthalmic Genetics|December 5, 2022
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case seriesElisa Marziali, Filip Van Den Broeck, Sara Bargiacchi, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna, Valentina Lanari, Paola Daniele, et al.
Ophthalmic Genetics|January 7, 2025
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international studyOgul E Uner, Radwa Elsharawi, Margaret Reynolds, et al.
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