Vu, Phi Yen

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