Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant
A full-term male infant born from consanguineous Saudi parents, with one other live child, is suspected to have skeletal dysplasia on a fetal anomaly scan. Clinical findings at birth included short stature, bowed long bone affecting the lower limbs more than the upper limbs, severe joint contracture...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wolters Kluwer Medknow Publications
2022-04-01
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| Edice: | International Journal of Pediatrics & Adolescent Medicine |
| Témata: | |
| On-line přístup: | https://journals.lww.com/10.1016/j.ijpam.2021.10.002 |
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