Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Zuha Alkhaldi"'
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 75-79 (2023)
Background: Anterior segment dysgenesis (ASD) is a developmental condition that affects the frontal part of the eyes. Genetic mutations in FORKHEAD BOX E3 can lead to a variety of ASD conditions. Case Presentation: Here, we report a 2-year-old female
Externí odkaz:
https://doaj.org/article/07d51903c7f54fde9bb1bab5337e6b32
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 85-88 (2023)
Background: Progressive pseudorheumatoid dysplasia (PPRD) is an inherited autosomal recessive musculoskeletal condition caused by mutations in the Cellular Communication Network Factor 6 (CCN6) gene. This causes a variety of clinical features such as
Externí odkaz:
https://doaj.org/article/a2f027a53aa146e795ab4c8f6db10579