Published in
Wiley, Human Mutation: Variation, Informatics and Disease, 10(36), p. 1009-1014, 2015
DOI: 10.1002/humu.22837
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GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK
Journal article published in 2015 by
P. Y. Billie Au,
Jing You,
Oana Caluseriu,
Jeremy Schwartzentruber 
,
Jacek Majewski,
Francois P. Bernier,
Marcia Ferguson,
David Valle,
Jillian S. Parboosingh,
Nara Sobreira,
A. Micheil Innes,
Antonie D. Kline
,
Jacek Majewski,
Francois P. Bernier,
Marcia Ferguson,
David Valle,
Jillian S. Parboosingh,
Nara Sobreira,
A. Micheil Innes,
Antonie D. Kline
This paper is made freely available by the publisher.
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