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Autor:
Kamil Możdżeń, Agnieszka Murawska, Julia Hypnar, Edward Pędziwiatr, Jakub Pośpiech, Kinga Kowalska-Duplaga
Publikováno v:
Pediatria Polska, Vol 99, Iss 1, Pp 77-83 (2023)
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked disorder resulting from mutations in the genes GPC3 or GPC4. Symptoms of SGBS vary but commonly include overgrowth, craniofacial dysmorphias, and multiple birth defects. This syndrome has 2 sub
Externí odkaz:
https://doaj.org/article/c20ed81942b7496391c24e10b673de94
