Published in
Cell Press, American Journal of Human Genetics, 3(107), p. 564-574, 2020
DOI: 10.1016/j.ajhg.2020.08.002
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De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
Journal article published in 2020 by
Jonathan Humbert,
Smrithi Salian,
Periklis Makrythanasis,
Gabrielle Lemire,
Justine Rousseau 
,
Sophie Ehresmann,
Thomas Garcia,
Rami Alasiri,
Armand Bottani,
Sylviane Hanquinet,
Erin Beaver,
Jennifer Heeley,
Ann C. M. Smith,
Seth I. Berger,
Stylianos E. Antonarakis
and other authors.
,
Sophie Ehresmann,
Thomas Garcia,
Rami Alasiri,
Armand Bottani,
Sylviane Hanquinet,
Erin Beaver,
Jennifer Heeley,
Ann C. M. Smith,
Seth I. Berger,
Stylianos E. Antonarakis
and other authors.
This paper was not found in any repository, but could be made available legally by the author.
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