The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is c...
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene
About this item
Full title
Author / Creator
Peter, Virginie G , Quinodoz, Mathieu , Pinto-Basto, Jorge , Sousa, Sergio B , Di Gioia, Silvio Alessandro , Soares, Gabriela , Ferraz Leal, Gabriela , Silva, Eduardo D , Pescini Gobert, Rosanna , Miyake, Noriko , Matsumoto, Naomichi , Engle, Elizabeth C , Unger, Sheila , Shapiro, Frederic , Superti-Furga, Andrea , Rivolta, Carlo and Campos-Xavier, Belinda
Publisher
United States: Elsevier Limited
Journal title
Language
English
Formats
Publication information
Publisher
United States: Elsevier Limited
Subjects
More information
Scope and Contents
Contents
We observed four individuals in two unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. The phenotype precisely matched that of an individual of Azorean descent publishe...
Alternative Titles
Full title
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene
Authors, Artists and Contributors
Author / Creator
Quinodoz, Mathieu
Pinto-Basto, Jorge
Sousa, Sergio B
Di Gioia, Silvio Alessandro
Soares, Gabriela
Ferraz Leal, Gabriela
Silva, Eduardo D
Pescini Gobert, Rosanna
Miyake, Noriko
Matsumoto, Naomichi
Engle, Elizabeth C
Unger, Sheila
Shapiro, Frederic
Superti-Furga, Andrea
Rivolta, Carlo
Campos-Xavier, Belinda
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2251125081
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2251125081
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-019-0595-x
