article_metadata: Jun Zhu Jun Qiu Gregg Magrane Malak Abedalthagafi Andrea Zanko Mahin Golabi Farid F Chehab
article_metadata: 10.1371/journal.pone.0052353
article_metadata: PLoS One
article_metadata: 2012;7(12):e52353.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/23300646/
article_metadata: Abnormalities, Multiple / diagnosis Chromosome Duplication / genetics Cytokines / genetics Hand Deformities, Congenital / diagnosis Intellectual Disability / diagnosis Micrognathism / diagnosis Neoplasm Proteins / genetics Obesity / diagnosis Obesity / genetics Translocation, Genetic / genetics Wnt Proteins / genetics
article_metadata: Abnormalities, Multiple / diagnosis Chromosome Duplication / genetics Cytokines / genetics Hand Deformities, Congenital / diagnosis Intellectual Disability / diagnosis Micrognathism / diagnosis Neoplasm Proteins / genetics Obesity / diagnosis Obesity / genetics Translocation, Genetic / genetics Wnt Proteins / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Child Chromosome Breakpoints Chromosomes, Human, Pair 22 / genetics Chromosomes, Human, Pair 7 / genetics DNA Mutational Analysis Diagnosis, Differential Exome / genetics Face / abnormalities Female Humans Neck / abnormalities Cytokines FAM3C protein, human Neoplasm Proteins WNT16 protein, human Wnt Proteins Coffin-Siris syndrome
article_metadata: PMC3531478
article_metadata: 23300646
article_metadata: Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome
article_metadata: 2012