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Latest Publications and Research on Harlequin Ichthyosis

Drug Saf   2020 Jan 24   

Hyperkeratotic Skin Adverse Events Induced by Anticancer Treatments: A Comprehensive Review.

Vastarella M, Fabbrocini G, Sibaud V

Hyperkeratotic skin adverse events are a group of toxic effects, characterized by the disruption of epidermal homeostasis and interaction with keratin ... Read More

Source: PubMed
Obstet Gynecol Sci      

Prenatal diagnosis of harlequin ichthyosis: a case report.

Vijayakumari M, Reddy DK, Routhu M, Vuchuru M, Reddy NS

Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the en ... Read More

Source: PubMed
Indian J Radiol Imaging      

Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI.

Kale KA, Ghonge NP, Kaul A

Most of the fetal deformities are caused due to genetic abnormalities. Although magnetic resonance imaging (MRI) may be used to accurately diagnose th ... Read More

Source: PubMed
PLoS Genet.      

Dysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster.

Wang Y, Norum M, Oehl K, Yang Y, Zuber R, Yang J, Farine JP, Gehring N, Flötenmeyer M, Ferveur JF, Moussian B

Prevention of desiccation is a constant challenge for terrestrial organisms. Land insects have an extracellular coat, the cuticle, that plays a major ... Read More

Source: PubMed
Eur J Dermatol      

Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome.

Ni C, Cheng RH, Zhang J, Liang JY, Wei RQ, Li M, Yao ZR

Neu-Laxova syndrome (NLS) is a rare hereditary disorder featuring intrauterine growth retardation, remarkable oedema with skin restriction, limb contr ... Read More

Source: PubMed
Drug Saf   2020 Jan 24   

Hyperkeratotic Skin Adverse Events Induced by Anticancer Treatments: A Comprehensive Review.

Vastarella M, Fabbrocini G, Sibaud V

Hyperkeratotic skin adverse events are a group of toxic effects, characterized by the disruption of epidermal homeostasis and interaction with keratin ... Read More

Source: PubMed
Obstet Gynecol Sci      

Prenatal diagnosis of harlequin ichthyosis: a case report.

Vijayakumari M, Reddy DK, Routhu M, Vuchuru M, Reddy NS

Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the en ... Read More

Source: PubMed
Indian J Radiol Imaging      

Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI.

Kale KA, Ghonge NP, Kaul A

Most of the fetal deformities are caused due to genetic abnormalities. Although magnetic resonance imaging (MRI) may be used to accurately diagnose th ... Read More

Source: PubMed
PLoS Genet.      

Dysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster.

Wang Y, Norum M, Oehl K, Yang Y, Zuber R, Yang J, Farine JP, Gehring N, Flötenmeyer M, Ferveur JF, Moussian B

Prevention of desiccation is a constant challenge for terrestrial organisms. Land insects have an extracellular coat, the cuticle, that plays a major ... Read More

Source: PubMed
Eur J Dermatol      

Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome.

Ni C, Cheng RH, Zhang J, Liang JY, Wei RQ, Li M, Yao ZR

Neu-Laxova syndrome (NLS) is a rare hereditary disorder featuring intrauterine growth retardation, remarkable oedema with skin restriction, limb contr ... Read More

Source: PubMed
Drug Saf   2020 Jan 24   

Hyperkeratotic Skin Adverse Events Induced by Anticancer Treatments: A Comprehensive Review.

Vastarella M, Fabbrocini G, Sibaud V

Hyperkeratotic skin adverse events are a group of toxic effects, characterized by the disruption of epidermal homeostasis and interaction with keratin ... Read More

Source: PubMed
Obstet Gynecol Sci      

Prenatal diagnosis of harlequin ichthyosis: a case report.

Vijayakumari M, Reddy DK, Routhu M, Vuchuru M, Reddy NS

Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the en ... Read More

Source: PubMed
Indian J Radiol Imaging      

Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI.

Kale KA, Ghonge NP, Kaul A

Most of the fetal deformities are caused due to genetic abnormalities. Although magnetic resonance imaging (MRI) may be used to accurately diagnose th ... Read More

Source: PubMed
PLoS Genet.      

Dysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster.

Wang Y, Norum M, Oehl K, Yang Y, Zuber R, Yang J, Farine JP, Gehring N, Flötenmeyer M, Ferveur JF, Moussian B

Prevention of desiccation is a constant challenge for terrestrial organisms. Land insects have an extracellular coat, the cuticle, that plays a major ... Read More

Source: PubMed
Eur J Dermatol      

Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome.

Ni C, Cheng RH, Zhang J, Liang JY, Wei RQ, Li M, Yao ZR

Neu-Laxova syndrome (NLS) is a rare hereditary disorder featuring intrauterine growth retardation, remarkable oedema with skin restriction, limb contr ... Read More

Source: PubMed

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