Výsledky vyhledávání - "Burcu Yeter Doğan"

A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome

Autor: Burcu Yeter Doğan, Neslihan Günay, Yasin Ada, Muhammet Ensar Doğan

Publikováno v: American journal of medical genetics. Part AREFERENCES. 191(1)

© 2022 Wiley Periodicals LLC.Until recently, mandibuloacral dysplasia (MAD) with type A and type B lipodystrophy was the first to come to mind in the association of mandibular hypoplasia, lipodystrophy, and acro-osteolysis. However, it has recently

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2435cf94e2287fe008a74cb97fcc513a
https://pubmed.ncbi.nlm.nih.gov/36269149

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