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Two Patients with Severe Short Stature due to a FBN1 mutation (p.Ala1728Val) with a mild form of Acromicric Dysplasia
BACKGROUND: Acromicric dysplasia (AD) and geleophysic dysplasia 2 (GD2) belong to the category of acromelic dysplasia syndromes, consisting of severe short stature, short hands and feet and skin thickening. Both can result from missense mutations in the transforming growth factor beta 5 domain of th...
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| Опубликовано в: : | Horm Res Paediatr |
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| Главные авторы: | , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2016
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5135661/ https://ncbi.nlm.nih.gov/pubmed/27245183 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000446476 |
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