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
Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family.
Zhang S et al.
Cells, 2022
Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing.
Chen B et al.
Journal of Ophthalmology, 2022
A case report of Arnold Chiari type 1 malformation in acromesomelic dwarf infant.
Maurya MR et al.
The Pan African Medical Journal, 2021
Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.
Al-Jezawi NK et al.
Bmc Medical Genetics, 2018
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A et al.
Orphanet Journal of Rare Diseases, 2016
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