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PedAM

Pediatric Disease Annotations & Medicines




Disease n syndrome
Phenotype C0020757|ichthyosis
Sentences 4
PubMedID- 22397046 We studied three turkish sjogren-larsson syndrome patients with ichthyosis, developmental delay, spastic diplegia, and brain white matter disease.
PubMedID- 25526335 Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum.
PubMedID- 20049467 ichthyosis in sjogren-larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.
PubMedID- 20022472 Epidermal triglyceride levels are correlated with severity of ichthyosis in dorfman-chanarin syndrome.

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