Výsledky vyhledávání - "Carey Ronspies"

Autor: Lois J. Starr, Carey Ronspies, Danita Velasco

Publikováno v: The Encyclopedia of Child and Adolescent Development. :1-8

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::58ef781a53630f85921f1f6de0ada0ac
https://doi.org/10.1002/9781119171492.wecad041

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Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability

Autor: Carey Ronspies, Lois J. Starr, Rohan Khazanchi, Scott C. Smith

Publikováno v: American journal of medical genetics. Part A. 179(5)

ARID2 loss-of-function is associated with a rare genetic disorder characterized in 14 reported patients to date. ARID2 encodes a member of the SWItch/sucrose non-fermentable chromatin remodeling complex. Other genes encoding subunits of this complex,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df3a768c2219ac0cbe86141007e2151c
https://pubmed.ncbi.nlm.nih.gov/30838730

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