The Liberfarb Syndrome, a Multisystem Disorder Affecting Eye, Ear, Bone, and Brain Development, Is Caused by a Founder Pathogenic Variant in the Pisd Gene

AuthID
 P-00Q-TJF
17
Author(s)
Peter, VG
·
Quinodoz, M
·
Pinto Basto, J
·
Di Gioia, SA
·
Soares, G
·
Leal, GF
·
Gobert, RP
·
Miyake, N
·
Matsumoto, N
·
Engle, EC
·
Unger, S
·
Shapiro, F
·
Campos Xavier, B
Document Type
Article
Year published
2019
Published
in GENETICS IN MEDICINE, ISSN: 1098-3600
Volume: 21, Issue: 12, Pages: 2734-2743 (10)
Indexing
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Publication Identifiers
Pubmed: 31263216
SCOPUS: 2-s2.0-85068575046
Wos: WOS:000500923300011
Source Identifiers
ISSN: 1098-3600
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