Published in
Wiley, The American Journal of Medical Genetics - Part A, 8(188), p. 2360-2366, 2022
DOI: 10.1002/ajmg.a.62872
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De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Journal article published in 2022 by
Monica Penon‐Portmann 
,
Mohammad K. Eldomery,
Lorraine Potocki,
Dana Marafi ,
Jennifer E. Posey ,
Zeynep Coban‐Akdemir,
Tamar Harel ,
Christopher M. Grochowski,
Hailey Loucks,
Walter Patrick Devine,
Jessica Van Ziffle,
Dan Doherty ,
James R. Lupski ,
Joseph T. Shieh
,
Mohammad K. Eldomery,
Lorraine Potocki,
Dana Marafi ,
Jennifer E. Posey ,
Zeynep Coban‐Akdemir,
Tamar Harel ,
Christopher M. Grochowski,
Hailey Loucks,
Walter Patrick Devine,
Jessica Van Ziffle,
Dan Doherty ,
James R. Lupski ,
Joseph T. Shieh
This paper is made freely available by the publisher.
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