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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

Author(s)

Peter, VG

Quinodoz, M

Pinto Basto, J

Sousa, SB

Di Gioia, SA

Soares, G

Leal, GF

Silva, ED

Gobert, RP

Miyake, N

Matsumoto, N

Engle, EC

Unger, S

Shapiro, F

Superti Furga, A

Rivolta, C

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)

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Publication Identifiers

DOI: 10.1038/s41436-019-0595-x

Pubmed: 31263216

Scopus: 2-s2.0-85068575046

Wos: WOS:000500923300011

Source Identifiers

ISSN: 1098-3600

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

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

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