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| A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families | |
| Adnan Al Shaikh, Bader Shirah, Somaya Alzelaye | |
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Ann Pediatr Endocrinol Metab. 2020;25(1):42-45. Published online March 31, 2020 DOI: https://doi.org/10.6065/apem.2020.25.1.42 |
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A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families Annals of Pediatric Endocrinology & Metabolism. 2020;25(1):42-45  A novel case of homozygous LDLRAP1 gene mutation causing autosomal recessive familial hypercholesterolemia in Kuwait Atherosclerosis. 2020;315:e221 Homozygous Insulin Promotor Gene Mutation Causing Permanent Neonatal Diabetes Mellitus and Childhood Onset Autoantibody Negative Diabetes in the Same Family International Medical Case Reports Journal. 2022;Volume 15:35-41 Autosomal recessive isolated familial acanthosis nigricans in a Pakistani family due to a homozygous mutation in the insulin receptor gene British Journal of Dermatology. 2013;169(2):476-478 Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease Journal of Child Science. 2021;11(01):e70-e73 A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy . 2022; Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene Pediatric Diabetes. 2011;13(6):e26-e29 Childhood Onset of Sulfonylurea Responsive Neonatal Diabetes Due to a Novel Homozygous Autosomal Recessive Mutation in the ABCC8 Gene which was Presumed to be Type 1B Diabetes Before Genetic Analysis AACE Clinical Case Reports. 2016;2(2):e117-e121 A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract Journal of Human Genetics. 2015;61(2):177-179 Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient The Journal of Dermatology. 2013;41(1):105-107 |
