Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.|Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Leila
L
Youssefian
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.|Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.
Hassan
H
Vahidnezhad
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Amir Hossein
AH
Saeidian
Department of Dermatology, Children's Medical Center, Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Soheila
S
Sotoudeh
Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.|Kawsar Human Genetics Research Center, Tehran, Iran.
Sirous
S
Zeinali
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Jouni
J
Uitto
D000505:Alopecia / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D015209:Cholangitis, Sclerosing / Q000175:diagnosis* / Q000235:genetics*; D062445:Claudin-1 / Q000172:deficiency* / Q000235:genetics; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics*; D007223:Infant; D007960:Leukocyte Disorders / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
C568108:CLDN1 protein, human; D062445:Claudin-1