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pro vyhledávání: '"Anne Elizabeth Baxter"'
Autor:
Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, Carolyn Jane Ellaway, Caitlin Forwood, Michael Stephen Hildebrand, Smitha Kumble, Colina McKeown, David Mowat, Gemma Poke, Sulekha Rajagopalan, Brigid M. Regan, Ingrid Eileen Scheffer, Zornitza Stark, Chloe Alice Stutterd, Tiong Yang Tan, Ella Jane Wilkins, Alison Yeung, Matthew Frank Hunter
Publikováno v:
American Journal of Medical Genetics Part A. 188:3432-3447
Verheij syndrome (VRJS) is a rare craniofacial spliceosomopathy presenting with craniofacial dysmorphism, multiple congenital anomalies and variable neurodevelopmental delay. It is caused by single nucleotide variants (SNVs) in PUF60 or interstitial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25bcb43ff4dcbc259aec3ea8610fceef
https://doi.org/10.1002/ajmg.a.62950
https://doi.org/10.1002/ajmg.a.62950
