Challenges of Phenotype-Genotype Correlations in Rare Diseases

Margaux C Masten¹, Erika F Augustine^{1

2}, Jonathan W Mink¹

Affiliations

Comment

Margaux C Masten et al. JAMA Ophthalmol. 2021.

. 2021 Dec 1;139(12):1323.

doi: 10.1001/jamaophthalmol.2021.4372.

Margaux C Masten¹, Erika F Augustine^{1

2}, Jonathan W Mink¹

No abstract available

Comment in

Challenges of Phenotype-Genotype Correlations in Rare Diseases-Reply.
Smirnov VM, Zeitz C, Audo I. Smirnov VM, et al. JAMA Ophthalmol. 2021 Dec 1;139(12):1323-1324. doi: 10.1001/jamaophthalmol.2021.4375. JAMA Ophthalmol. 2021. PMID: 34709364 No abstract available.

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
Smirnov VM, Nassisi M, Solis Hernandez C, Méjécase C, El Shamieh S, Condroyer C, Antonio A, Meunier I, Andrieu C, Defoort-Dhellemmes S, Mohand-Said S, Sahel JA, Audo I, Zeitz C. Smirnov VM, et al. JAMA Ophthalmol. 2021 Mar 1;139(3):278-291. doi: 10.1001/jamaophthalmol.2020.6089. JAMA Ophthalmol. 2021. PMID: 33507216 Free PMC article.