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Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

Joshi Stephen; Thierry Vilboux; Luhe Mian; Chulaluck Kuptanon; Courtney M. Sinclair; Deniz Yildirimli; Dawn M. Maynard; Joy Bryant; Roxanne Fischer; Meghana Vemulapalli; James C. Mullikin; Marjan Huizing; William A. Gahl; May Christine V. Malicdan; Meral Gunay-Aygun
Human Genetics · Vol. 136, Issue 4 · pp. 399-408 · 2017

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2017-04-01
Publication Year2017
Volume136
Issue4
Pages399-408
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-017-1765-z

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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