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pro vyhledávání: '"Dollar Goradia"'
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 15, Iss 4, Pp GD04-GD06 (2021)
Rett syndrome is an X-linked dominant disorder that is primarily seen in females and is linked to mutations in the gene coding for Methyl-CpG Binding Protein 2 (MeCP2). It is a neurodevelopmental disorder characterised by impairments in language, re
Externí odkaz:
https://doaj.org/article/02fbc20b71fc4fb1a68316420e815c7e
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 15, Iss 4, Pp GD04-GD06 (2021)
Rett syndrome is an X-linked dominant disorder that is primarily seen in females and is linked to mutations in the gene coding for Methyl-CpG Binding Protein 2 (MECP2). It is a neurodevelopmental disorder characterised by impairments in language, rep
Publikováno v:
Fetal and pediatric pathology. 37(6)
Cystic fibrosis (CF) is a genetic disease usually diagnosed by clinical findings and abnormal sweat chloride testing.We report a case of an 18-month-old Indian female with clinical findings suggestive of CF referred for genetic confirmation. The CFTR