Preterm Infant with Craniofacial Dysmorphic Features and Posture
Author:
Affiliation:
1. Pediatrics Department, Hospital Pedro Hispano, Matosinhos, Portugal
2. Pediatrics Department, Centro Hospitalar do Médio Ave, Famalicão, Portugal
3. Neonatal Intensive Care Unit, Centro Materno Infantil do Norte, Porto, Portugal
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology and Child Health
Link
https://publications.aap.org/neoreviews/article-pdf/23/3/e208/1265000/neoreviews.082020iositn00116.pdf
Reference10 articles.
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3. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome;Hoischen;Nat Genet,2011
4. The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndrome;Urreizti;Clin Case Reports,2018
5. Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations;Magini;Am J Med Genet Part A,2012
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