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Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene

Autor: Aashita Takkar, Veronica Arora, Renu Saxena, Praveen Kumar, IC Verma

Publikováno v: Indian journal of pediatrics. 89(11)

Sotos syndrome is caused by heterozygous pathogenic variants or deletions in the long arm of chromosome 5 encompassing NSD1. The cardinal features of this condition are overgrowth, macrocephaly, and intellectual disability. Conversely, duplications l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d410694f8d9907a56a1bc915bd4aa9bb
https://pubmed.ncbi.nlm.nih.gov/35925544

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Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene

Autor: Dinesh Khullar, IC Verma, S. Pandita, R. Saxena

Publikováno v: Indian Journal of Nephrology
Indian Journal of Nephrology, Vol 28, Iss 6, Pp 482-484 (2018)

Autosomal dominant polycystic kidney disease is characterized by multiple cysts in both kidneys manifesting in adult life. In general, the disorder is caused by a pathogenic variant in one allele of PKD1 or PKD2 genes, while the other allele is norma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c2f35c90460e78b1cc5e187f9b7bc9e
http://europepmc.org/articles/PMC6309388

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A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian family

Autor: Flachsová E, Ic, Verma, Ulbrichová D, Saxena R, Jiri Zeman, Saudek V, Cs, Raman, Martásek P

Publikováno v: Scopus-Elsevier
Europe PubMed Central

Based on Internet search, we were contacted by a 50-year-old man suffering from severe abdominal pain. Acute hepatic porphyria was considered from positive Watson-Schwartz test. He, not being a health professional, searched for centres with ability t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::76546fd704db6b67f4c6c25298319ecf
https://pubmed.ncbi.nlm.nih.gov/18070416

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