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Items: 2

1.

Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL.

Onoufriadis A, Simpson JK, McDonald C, Nguyen TTM, Campeau PM, Simpson MA, Martinez AE, McGrath JA.

Clin Exp Dermatol. 2019 Sep 18. doi: 10.1111/ced.14077. [Epub ahead of print] No abstract available.

PMID:
31535386
2.

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.

Baratang NV, Jimenez Cruz DA, Ajeawung NF, Nguyen TTM, Pacheco-Cuéllar G, Campeau PM.

Mol Genet Genomic Med. 2019 Jul;7(7):e00743. doi: 10.1002/mgg3.743. Epub 2019 May 24.

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