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Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation
1 of 30 checkable references need attention · checked 2026-07-23
At the dated check, the references listed below either did not resolve in Crossref or DataCite, or carried a retraction notice. Each one is shown with the registry record that put it there.
References needing attention
does not resolve to a known work10.3760/cma.j.issn.1003-9406.2012.01.001
The 29 checked references that resolve
resolves10.1089/lrb.2007.1020
More than Skin Deep: A Case of Congenital Lamellar Ichthyosis, Lymphatic Malformation, and Other Abnormalities
resolves10.1046/j.1365-2230.2003.01295.x
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis
resolves10.1007/s004390050697
Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis
resolves10.1016/j.bbalip.2013.08.009
The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation
resolves10.2340/00015555-2022
Lamellar Ichthyosis Caused by a Previously Unreported Homozygous ALOXE3 Mutation in East Asia
resolves10.1038/jid.2013.153
Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length
resolves10.1016/j.jdermsci.2013.06.008
Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean
resolves10.1111/bjd.15308
Sixteen novel mutations in <i>PNPLA1</i>
in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in <i>PNPLA1</i>
that is essential for proper human skin barrier function
resolves10.1111/j.1365-4632.2011.05171.x
Characterization of <i>TGM1</i> c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis
resolves10.1007/s00403-007-0815-0
Rapid detection of homozygous mutations in congenital recessive ichthyosis
resolves10.1111/1346-8138.14675
Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in <i>TGM1</i> cause a severe form of lamellar ichthyosis
resolves10.1093/nar/gkg565
VADAR: a web server for quantitative evaluation of protein structure quality
resolves10.1093/bioinformatics/btx417
SCooP: an accurate and fast predictor of protein stability curves as a function of temperature
resolves10.1002/jcb.26834
Protein phenotype diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms
resolves10.1038/ng.3703
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
resolves10.1111/ijd.13279
Novel mutations in <i><scp>TGM</scp>1</i> and <i><scp>ABCA</scp>12</i> cause autosomal recessive congenital ichthyosis in five Saudi families
resolves10.1111/ijd.13568
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI‐related genes from the United Arab Emirates
resolves10.2340/00015555-2418
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients
resolves10.1111/exd.13813
Patients with congenital ichthyosis and <i><scp>TGM</scp>1</i> mutations overexpress other <scp>ARCI</scp> genes in the skin: Part of a barrier repair response?
resolves10.1002/jcb.25499
A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 Gene
resolves10.1007/s11011-018-0286-3
Computational modelling approaches as a potential platform to understand the molecular genetics association between Parkinson’s and Gaucher diseases
resolves10.1074/jbc.M110.128645
Type I Transglutaminase Accumulation in the Endoplasmic Reticulum May Be an Underlying Cause of Autosomal Recessive Congenital Ichthyosis
resolves10.1002/humu.20765
Evaluation of in silico splice tools for decision-making in molecular diagnosis
resolves10.1371/journal.pone.0094848
A Splice Mutation and mRNA Decay of EXT2 Provoke Hereditary Multiple Exostoses
resolves10.1016/j.pedneo.2018.01.003
Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis
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