Congenital heart disease in harlequin ichthyosis: Case series
Journal of Family Medicine and Primary Care, 2019 Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis and inherited in an autosomal recessive manner. The disease is marked by severe thickened and scaly skin on the entire body.
Bhupendra Verma +3 more
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Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2 [PDF]
, 2000 Elina Virolainen +7 more
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Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families [PDF]
, 2004 Rabah M. Shawky +2 more
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Successful Treatment with Topical N‐Acetylcysteine in Urea in Five Children with Congenital Lamellar Ichthyosis [PDF]
, 2011 Adriana Bassotti +2 more
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837 Untargeted lipidomics and transcriptomics suggest role of ceramide increases in congenital ichthyosis phenotypes [PDF]
, 2023 A. Paller +7 more
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Management of harlequin ichthyosis in low-income countries [PDF]
, 2011 Mesia, D, Rossi, G
core +2 more sources
Successful experimental treatment of congenital ichthyosis in an infant [PDF]
, 2013 Brandy Deffenbacher
openalex +1 more source
Caspian Journal of Neurological Sciences, 2015 Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation.
Karim Nikkhah +2 more
doaj
Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient [PDF]
, 2014 Kavitha Ramar +5 more
openalex +1 more source
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency [PDF]
, 2017 Connolly, Anne M +4 more
core +2 more sources