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Select item 97935301.

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

Tomomi Kotani, Hiroyuki Tsuda, Yumiko Ito, Noriyuki Nakamura, Takafumi Ushida, Kenji Imai, Yukako Iitani, Kazuya Fuma, Yukako Muramatsu, Masahiro Hayakawa, Hiroaki Kajiyama

J Med Case Rep. 2022; 16: 481. Published online 2022 Dec 27. doi: 10.1186/s13256-022-03713-z

PMCID:: PMC9793530

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Select item 28226442.

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Ali Jalali, Kimberly A. Aldinger, Ajit Chary, David G. Mclone, Robin M. Bowman, Luan Cong Le, Phillip Jardine, Ruth Newbury-Ecob, Andrew Mallick, Nadereh Jafari, Eric J. Russell, John Curran, Pam Nguyen, Karim Ouahchi, Charles Lee, William B. Dobyns, Kathleen J. Millen, Joao M. Pina-Neto, John A. Kessler, Alexander G. Bassuk

Hum Genet. Author manuscript; available in PMC 2010 Feb 16.

Published in final edited form as: Hum Genet. 2008 Apr; 123(3): 237. Published online 2008 Jan 19. doi: 10.1007/s00439-008-0467-y