A novel nonsense mutation in CTSC causes Papillon–Lefèvre syndrome with uronephrosis
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A Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...
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restriction. Am J Obstet Gynecol 2003;188:480–4. 9. Alcazar JL, Ruiz-Perez ML. Uteroplacental circulation in patients with firsttrimester threatened abortion. Fertil Steril 2000;3:130–5. 10. Berry E, Aitken DA, Crossley JA, Macri JN, Connor JM. Analysis of maternal serum -fetoprotein and free human chorionic gonadotrophin in the first trimester: implications for Down syndrome screening. Prenat ...
متن کاملa novel nonsense mutation in kiaa1279 gene is associated with goldberg-shprintzen syndrome
abstract goldberg-shprintzen syndrome (omim 609460) (goshs) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. most affected individuals also have hirschsprung disease and/or gyral abnormalities of the brain. this syndrome has been shown to be associated with kiaa1279 gene mutations at 10q...
متن کاملIdentification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome
Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family. Case Report: The...
متن کاملa novel nonsense mutation in pank2 gene in two patients with pantothenate kinase-associated neurodegeneration
pantothenate kinase- associated neurodegeneration (pkan) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. it has been shown that the disorder is caused by mutations in pank2 gene which codes for a mitochondrial enzyme participating in coenzyme a biosynthe...
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ژورنال
عنوان ژورنال: Dermatologica Sinica
سال: 2016
ISSN: 1027-8117
DOI: 10.1016/j.dsi.2015.11.003