Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1

Karynne Patterson, Jessica X. Chong, Doug D. Chung, Walter Lisch, Carol L. Karp, Erling Dreisler, David Lockington, Jens M. Rohrbach, Dorota Garczarczyk-Asim, Thomas Müller, Stephen J. Tuft, Pavlina Skalicka, Yael Wilnai, Nadra Naser Samra, Ali Ibrahim, Hanna Mandel, Alice E. Davidson, Petra Liskova, Anthony J. Aldave, Michael J. BamshadAndreas R. Janecke

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Keyphrases

Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry