Zobrazeno 1 - 1
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pro vyhledávání: '"Kathryn eNess"'
Publikováno v:
Frontiers in Pediatrics, Vol 3 (2015)
We present two siblings affected with opsismodysplasia, a rare skeletal dysplasia caused by mutations in the INPPL1 gene. The skeletal findings include short stature with postnatal onset micromelia, marked platyspondyly, squared metacarpals, delayed
Externí odkaz:
https://doaj.org/article/16f971f4067f409ab42a9dad4a0a7f11
