Associated Papers
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.
Rad A et al.
Clinical Genetics, 2024
Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.
Iyengar R et al.
Ophthalmic Genetics, 2023
Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family.
Zhang S et al.
Cells, 2022
Identification and Computational Analysis of Rare Variants of Known Hearing Loss Genes Present in Five Deaf Members of a Pakistani Kindred.
Saleem IB et al.
Genes, 2021
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs
The genetic landscape of familial congenital hydrocephalus.
Shaheen R et al.
Annals of Neurology, 2017
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