Embryotoxon
National Institutes of Health
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AIMS AND BACKGROUND
Ophthalmic abnormalities are amongst the five major criteria required for a diagnosis of Alagille syndrome…
We report on two patients with de novo subtelomeric terminal deletion of chromosome 6p. Patient 1 is an 8‐month‐old female born…
Del(22q11) is a common microdeletion syndrome with an extremely variable phenotype. Besides classical manifestations, such as…
The clinical, biochemical, and histological features of 27 children with syndromic paucity of the interlobular bile ducts are…
Slit-lamp examinations were conducted in 17 patients with X-linked inchtyosis, 11 female carriers, and 9 patients with ichthyosis…
Excerpt To the editor: In a recent issue Riely and associates (1) reported the presence of a posterior embryotoxon in five adults…