Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Aashita Takkar"'
Publikováno v:
Indian Pediatrics Case Reports, Vol 2, Iss 2, Pp 84-87 (2022)
Background: Behavioral phenotypes are observable patterns of behavior present in certain genetic syndromes that have distinctive social, linguistic, cognitive, and motor profiles. These may play an important role as pointers toward certain genetic di
Externí odkaz:
https://doaj.org/article/be1aeea22a884bdfbd5e131d16b3185b
Publikováno v:
Journal of Pediatric Genetics.
Beckwith-Wiedemann syndrome (BWS; MIM# 130650) is a well-characterized pediatric overgrowth disorder. In approximately 5% of the cases, it is caused by pathogenic variants in the CDKN1C (cyclin-dependent kinase inhibitor 1C). CDKN1C gene encodes for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddb33980df7653c024ef58dde6640822
https://doi.org/10.1055/s-0043-1764126
https://doi.org/10.1055/s-0043-1764126
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
https://pubmed.ncbi.nlm.nih.gov/35925544
Publikováno v:
Indian Journal of Pediatrics. 89:945-945
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d1ad264aa41f25d783793c8ea2921e
https://doi.org/10.1007/s12098-022-04310-0
https://doi.org/10.1007/s12098-022-04310-0