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Articles (10)

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1-10 of 10 results for autosomal recessive congenital ichthyosis

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Select article: Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency

Free access

Research article

First published 2015-7

Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency

E. A. Mauldin, P. Wang, E. Evans [...]

Veterinary Pathology

Select article: Case report of self-improving collodion ichthyosis in the newborn

Open access

Research article

First published 2023-10

Case report of self-improving collodion ichthyosis in the newborn

Suyue Zhu, Yazhou Jiang, Nan Shen [...]

Journal of International Medical Research

Select article: Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing

Retricted access

Research article

First published 2019-06

Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing

Noreen Karim, Aman Ullah, Ghulam Murtaza [...]

Genetic Testing and Molecular Biomarkers

Select article: Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother

Open access

Case report

First published 2024

Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother

Rachel L Aubry, A. Micheil Innes, Richard M Haber

Sage Open Medical Case Reports

Select article: A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report

Open access

Research article

First published 2025-10

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report

Wang Lixiang, Li Xianghong, Yang Lexia [...]

Journal of International Medical Research

Select article: Harlequin ichthyosis newborn: A case report

Open access

Case report

First published 2022

Harlequin ichthyosis newborn: A case report

Maryam Nikbina, Masoumeh Sayahi

Sage Open Medical Case Reports

Select article: A Very Rare Neurocutaneous Disorder in 2 Siblings: Sjögren-Larsson Syndrome

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Other

First published 2010-8

A Very Rare Neurocutaneous Disorder in 2 Siblings: Sjögren-Larsson Syndrome

Ahmet Okay Caglayan, Hakan Gumus

Journal of Child Neurology

Select article: Characterization of Epidermal Lipoxygenase Expression in Normal Human Skin and Tissue-Engineered Skin Substitutes

Free access

Research article

First published 2018-11

Characterization of Epidermal Lipoxygenase Expression in Normal Human Skin and Tissue-Engineered Skin Substitutes

Carolyne Simard-Bisson, Lorraine Andrée Parent, Véronique J. Moulin [...]

Journal of Histochemistry & Cytochemistry

Select article: Gaucher Disease with Prenatal Onset and Perinatal Death Due to Compound Heterozygosity for the Missense R131C and Null Rec Nci I GBA Mutations

Retricted access

Case report

First published 2011-5

Gaucher Disease with Prenatal Onset and Perinatal Death Due to Compound Heterozygosity for the Missense R131C and Null Rec Nci I GBA Mutations

April Goebl, Raechel A. Ferrier, Patrick Ferreira [...]

Pediatric and Developmental Pathology

Select article: End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature

Open access

Case report

First published 2022

End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature

Lester H. Lambert, Noreen Shaikh, Jeffrey L. Marx [...]

Therapeutic Advances in Rare Disease

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