Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

A mouse model of Greig cephalo–polysyndactyly syndrome: the extra–toesJ mutation contains an intragenic deletion of the Gli3 gene

Chi‐chung Hui, Alexandra L. Joyner · Nature Genetics · 1993 · 710 citations

Life Sciences, Genetics, Molecular Genetics +11

Identification of the gene responsible for Best macular dystrophy

Konstantin Petrukhin, Markus J. Koisti, Benjamin Bakall et al. · Nature Genetics · 1998 · 686 citations

Medicine, Genetics, Molecular Genetics +12

A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases

R. W. B. Ellis, S. Van Creveld · Archives of Disease in Childhood · 1940 · 345 citations · Full text

Medicine, Pediatrics, Genodermatoses +6

The human gene mutation database

Michael Krawczak · Trends in Genetics · 1997 · 261 citations

Life Sciences, Genetics, Molecular Genetics +15

DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

Victor A. McKusick, Janice A. Egeland, Roswell Eldridge et al. · PubMed · 1964 · 211 citations

Medicine, Pediatrics, Human Genetics +5