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Autistic regression in a child with Silver–Russell Syndrome and maternal UPD 7

✍ Scribed by Orna Vardi; Michael Davidovitch; Chana Vinkler; Marina Michelson; Tally Lerman-Sagie; Dorit Lev


Book ID
113590636
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
123 KB
Volume
16
Category
Article
ISSN
1090-3798

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reported the first two cases of uniparental disomy (UPD) in men. Both patients were identified because of the observed autosomal recessive phenotype of cystic fibrosis (CF) resulting from homozygosity for a maternally inherited CFTR mutation. Prenatal and postnatal growth retardation in both patient