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Severe short stature in two siblings as the presenting sign of ACP5 deficiency
BACKGROUND: ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various auto-immune and neurological symptoms in addition to short stature. METHODS: Two siblings from a consanguineous Turkish family, a girl age 13 (P1) and a boy age 8 (P2), presented to t...
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| Udgivet i: | Horm Res Paediatr |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4891295/ https://ncbi.nlm.nih.gov/pubmed/26789720 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000443684 |
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