Browsing Centre for Cell Biology and Cutaneous Research by Author "Aggarwal, S"
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Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis
Aggarwal, S; Kar, A; Bland, P; Kelsell, D; Dalal, A (2015-01-01)© 2014 Elsevier B.V. Harequin ichthyosis is a severe autosomal recessive ichthyosis of congenital onset caused by biallelic mutations in the ABCA12 gene. We report two neonates of Indian origin with harlequin ichthyosis. ...