Article
High rate of autonomic neuropathy in Cornelia de Lange Syndrome.
Orphanet journal of rare diseases - 30 Oct 2021
Pablo M J, Pamplona P, Haddad M, Benavente I, Latorre-Pellicer A, Arnedo M, Trujillano L, Bueno-Lozano G, Kerr L M, Huisman S A, Kaiser F J, Ramos F, Kline A D, Pie J, Puisac B
Abstract excerpt
BACKGROUND: Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct...
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