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 Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

PLoS ONE ◽  
2018 ◽  
Vol 13 (11) ◽  
pp. e0208324 ◽  
Author(s):  
Megan McSherry ◽  
Katherine E. Masih ◽  
Nursel H. Elcioglu ◽  
Pelin Celik ◽  
Ozge Balci ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene ◽  
Genetic Heterogeneity ◽  
Autosomal Recessive ◽  
Pathogenic Variants

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

Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures

Neurogenetics ◽  
2005 ◽  
Vol 6 (3) ◽  
pp. 143-149 ◽  
Author(s):  
C. L. Bennett ◽  
H. M. Huynh ◽  
P. F. Chance ◽  
I. A. Glass ◽  
S. M. Gospe
Keyword(s):  
Genetic Heterogeneity ◽  
Autosomal Recessive

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

scholarly journals Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

2013 ◽  
Vol 92 (4) ◽  
pp. 598-604 ◽  
Author(s):  
Ranad Shaheen ◽  
Mona Aglan ◽  
Kim Keppler-Noreuil ◽  
Eissa Faqeih ◽  
Shinu Ansari ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Autosomal Recessive

scholarly journals 182 Genetic heterogeneity of STS gene mutations in a Dutch patient cohort clinically suspected for X-linked recessive ichthyosis

2021 ◽  
Vol 141 (10) ◽  
pp. S179
Author(s):  
I.F. Nagtzaam ◽  
F.S. van Leersum ◽  
L.C. Kouwenberg ◽  
M. Vreeburg ◽  
P. Steijlen ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Gene Mutations ◽  
Patient Cohort ◽  
Dutch Patient ◽  
Recessive Ichthyosis
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