טוען...
Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD)...
שמור ב:
| הוצא לאור ב: | Ital J Pediatr |
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| Main Authors: | , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2012
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4231415/ https://ncbi.nlm.nih.gov/pubmed/22995099 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1824-7288-38-48 |
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