Article
Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.
American journal of medical genetics. Part A - 1 May 2018
Gold June-Anne, Mahmoud Ranim, Cassidy Suzanne B, Kimonis Virginia
Abstract excerpt
Prader-Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, short stature, facial dysmorphism, intellectual disability, and behavioral problems. We studied perinatal factors in a cohort of 64 people with PWS resulting from paternal deletion of 15q11-q13 and maternal...
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