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Volume 17 | Issue 4 | October - December 2024 |
| ISSN : 2454-8774 |
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GeNeDit |
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| October - December 2024 | Vol 17 | Issue 4 | 01-02 | |||
| Genetics, Genomics and Clinical Geneticists: What's ahead? | |||
| As one walks towards the horizon, distant pictures start becoming clearer while new blurred images appear on the horizon. We need to walk further to get a clearer view of them. Same thing happens in genetic diagnostics. The techniques to evaluate genes and the genome have improved greatly but one investigatio... Dr. Shubha Phadke |
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PhotoQuiz |
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| October - December 2024 | Vol 17 | Issue 4 | Cover Page | This 2-year-old male child, born of third-degree consanguineous marriage, presented with
coarse facies, gingival hypertrophy, multiple nodular swellings over the scalp and lumbosacral region, pearly papules of the neck and perianal region, and contractures of
the large and small joints. Identify the conditi... Dr Haseena Sait |
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Clinical Vignette |
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| October - December 2024 | Vol 17 | Issue 4 | 03-08 | |||||
| Bohring-Opitz Syndrome: Report of a Patient with a Novel Variant in the ASXL1 Gene and Review of Literature | |||||
| Bohring-Opitz Syndrome (BOS) is a very rare genetic disorder with multiple anomalies caused by heterozygous pathogenic variants in the ASXL1 gene. The child reported here had the classic presentation of BOS due to a novel pathogenic variant in the ASXL1 gene.... Roopa Kunthavai Chellappa 1, Santhosh Govindarajulu 2, Venkatesh Chellappa 3 |
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Clinical Vignette |
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| October - December 2024 | Vol 17 | Issue 4 | 09-16 | |||||
| Ehlers-Danlos Syndrome with Glycosaminoglycan Abnormalities: A Report of the Rare Musculocontractural and Spondylodysplastic Subtypes | |||||
| Ehlers-Danlos syndrome (EDS) is a heterogeneous group of genetic connective tissue disorders characterized by skin hyperextensibility, joint hypermobility, and atrophic scarring. The majority of cases are caused by mutations in the collagen-encoding or collagen-modifying genes. A rarer subset of EDS with atyp... Roopadarshini B1, Neelam Saini1, Ashwin Dalal2, Shagun Aggarwal1,2 |
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GeNeViSTA |
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| October - December 2024 | Vol 17 | Issue 4 | 17-23 | |||||
| Genetics of Neonatal Diabetes: An Update | |||||
| Neonatal diabetes mellitus (NDM) is defined as persistent hyperglycemia in infants within the first six months of life or rarely within one year of life, along with absent or insufficient circulating insulin. It can be either transient or permanent diabetes, depending on the duration of insulin requirement. T... Aysha Kabeer, Sankar VH |
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GeNeXprESS |
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| October - December 2024 | Vol 17 | Issue 4 | 24-25
Novel Tools for Detecting Structural Variants: Optical Genome Mapping and More Genomic inversions, segments of DNA with reversed orientation compared to the reference genome, are prevalent in human populations and vary in size. Traditional karyotyping can detect these inversions but typically misses those smaller than 10 Mb. Despite... Saswati Das |
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Announcements |
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1. 9th Annual Conference of the SIAMG 2. IAMG 2024 Conference – Ahmedabad, Gujarat, India Preconference Workshops on 5th December 2024 |
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