A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome. [electronic resource]
- American journal of medical genetics. Part A Nov 2012
- 2849-56 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.35694 doi
Abnormalities, Multiple--diagnosis Amino Acid Sequence Base Sequence Child Chromosome Breakpoints Coloboma--diagnosis Fetal Macrosomia--diagnosis Gene Expression Profiling Genetic Predisposition to Disease Head--abnormalities Homozygote Humans In Situ Hybridization, Fluorescence Intellectual Disability--diagnosis Karyotype Male Megalencephaly--diagnosis Molecular Sequence Data Mutation Obesity--diagnosis Open Reading Frames Phenotype RNA, Long Noncoding--genetics Translocation, Genetic