A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons
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 subtypes, known as type I and type II. This report pr...
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Main Authors: | Kamil Możdżeń (Author), Agnieszka Murawska (Author), Julia Hypnar (Author), Edward Pędziwiatr (Author), Jakub Pośpiech (Author), Kinga Kowalska-Duplaga (Author) |
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Format: | Book |
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Termedia Publishing House,
2023-09-01T00:00:00Z.
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