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Autor:
Tinatin Tkemaladze, Kakha Bregvadze, Eka Kvaratskhelia, Manish Aaryan Kapoor, Nino Orjonikidze, Elene Abzianidze
Publikováno v:
SAGE Open Medical Case Reports, Vol 10 (2022)
Nager syndrome (MIM #154400) is a rare acrofacial dysostosis syndrome predominantly characterized by malformations in craniofacial and preaxial limb bones. Most cases are sporadic and present with significant clinical heterogeneity. Although autosoma
Externí odkaz:
https://doaj.org/article/37267cc55c0e4a469ec170821a5ac81c