Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families

2018 ◽  
Vol 59 (5) ◽  
pp. 179-180
Author(s):  
Ambreen Ijaz ◽  
Musharraf Jelani ◽  
Anila Panezai ◽  
Tahmina Rabbani ◽  
Iftikhar A. Rasool ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Recessive Ichthyosis

Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency

2018 ◽  
Vol 93 (6) ◽  
pp. 1252-1253 ◽  
Author(s):  
D. Monies ◽  
J. Anabrees ◽  
N. Ibrahim ◽  
H. Elbardisy ◽  
M. Abouelhoda ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Recessive Ichthyosis

scholarly journals Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

2007 ◽  
Vol 80 (3) ◽  
pp. 467-477 ◽  
Author(s):  
Lina Basel-Vanagaite ◽  
Revital Attia ◽  
Akemi Ishida-Yamamoto ◽  
Limor Rainshtein ◽  
Dan Ben Amitai ◽  
...  
Keyword(s):  
Serine Protease ◽  
Autosomal Recessive ◽  
Type Ii ◽  
Transmembrane Serine Protease ◽  
Recessive Ichthyosis

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

2019 ◽  
Vol 182 (3) ◽  
pp. 729-737 ◽  
Author(s):  
J.K. Simpson ◽  
M. Martinez‐Queipo ◽  
A. Onoufriadis ◽  
S. Tso ◽  
E. Glass ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Recessive Ichthyosis

scholarly journals Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity

2000 ◽  
Vol 66 (3) ◽  
pp. 904-913 ◽  
Author(s):  
Judith Fischer ◽  
Alexandra Faure ◽  
Bakar Bouadjar ◽  
Claudine Blanchet-Bardon ◽  
Aysen Karaduman ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Autosomal Recessive ◽  
Recessive Ichthyosis

scholarly journals Mutation G827R in Matriptase Causing Autosomal Recessive Ichthyosis with Hypotrichosis Yields an Inactive Protease

2008 ◽  
Vol 283 (16) ◽  
pp. 10535-10542 ◽  
Author(s):  
Antoine Désilets ◽  
François Béliveau ◽  
Guillaume Vandal ◽  
François-Olivier McDuff ◽  
Pierre Lavigne ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Recessive Ichthyosis
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