A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome. [electronic resource]
Producer: 20130621Description: 2849-56 p. digitalISSN:- 1552-4833
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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