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American Journal of Medical Genetics. Part A|July 13, 2006
Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1)Yasutsugu Chinen, Tadashi Kaname, Kumiko Yanagi, et al.Journal of Human Genetics|July 27, 2005
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patientsYoshiyuki Matsumoto, Ken-Ichi Morishima, Akira Honda, et al.Human Genetics|August 24, 2023
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature spermTakeshi Sugimoto, Hidehito Inagaki, Tasuku Mariya, et al.BMC Genetics|March 8, 2002
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIXElizabeth C Engle, Nathalie McIntosh, Koki Yamada, et al.Nature Genetics|November 5, 2003
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)Koki Yamada, Caroline Andrews, Wai-Man Chan, et al.Pageof 1