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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2023-09-01
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| Series: | Pediatria Polska |
| Subjects: | |
| Online Access: | https://www.termedia.pl/A-rare-case-of-family-suffering-from-Simpson-Golabi-Behmel-syndrome-with-an-uncommon-manifestation-in-a-mother-and-2-sons,127,51499,1,1.html |