Výsledky vyhledávání - "Maria L. Duran‐Pasten"

A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?

Autor: German A. Mora‐Roldan, Carlos Galaviz‐Hernandez, Jose Hiebert‐Froese, Arturo Hernandez, Luis Montes, Maria L. Duran‐Pasten, Karlen Gazarian, Juan C. Zenteno

Publikováno v: American journal of medical genetics. Part AREFERENCES. 188(7)

We describe a sibling pair of Mennonite origin born from consanguineous parentage with a likely new phenotype of limb-girdle muscular dystrophy, short stature, ptosis, and tracheomalacia. Exome sequencing in the affected subjects identified a novel h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30184cdddbca61b780208d1b98b2c109
https://pubmed.ncbi.nlm.nih.gov/35274444

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