Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

AUTS2 syndrome is characterized by low birth weight, feeding difficulties, intellectual disability, microcephaly and mild dysmorphic features. All affected individuals thus far were caused by chromosomal rearrangements, variants at the base pair level disrupting AUTS2 have not yet been described. He...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Beunders, Gea, de Munnik, Sonja A, Van der Aa, Nathalie, Ceulemans, Berten, Voorhoeve, Els, Groffen, Alexander J, Nillesen, Willy M, Meijers-Heijboer, Elizabeth J, Frank Kooy, R, Yntema, Helger G, Sistermans, Erik A
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2015
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795056/
https://ncbi.nlm.nih.gov/pubmed/25205402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.173
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