Article
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
American journal of medical genetics. Part A - 1 Nov 2012
Vu Phi Yen, Toutain Jérôme, Cappellen David, Delrue Marie-Ange, Daoud Hussein, El Moneim Azza Abd, Barat Pascal, Montaubin Orianne, Bonnet Françoise, Dai Zong Qi, Philippe Christophe, Tran Cong Toai, Rooryck Caroline, Arveiler Benoît, Saura Robert, Briault Sylvain, Lacombe Didier, Taine Laurence
Abstract excerpt
Macrosomia, obesity, macrocephaly, and ocular abnormalities syndrome (MOMO syndrome) has been reported in only four patients to date. In these sporadic cases, no chromosomal or molecular abnormality has been identified thus far. Here, we report on the clinical, cytogenetic, and molecular findings...
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