The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and p...
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
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Author / Creator
Chen, Chun-An , Bosch, Daniëlle G.M. , Cho, Megan T. , Rosenfeld, Jill A. , Shinawi, Marwan , Lewis, Richard Alan , Mann, John , Jayakar, Parul , Payne, Katelyn , Walsh, Laurence , Moss, Timothy , Schreiber, Allison , Schoonveld, Cheri , Monaghan, Kristin G. , Elmslie, Frances , Douglas, Ganka , Boonstra, F. Nienke , Millan, Francisca , Cremers, Frans P.M. , McKnight, Dianalee , Richard, Gabriele , Juusola, Jane , Kendall, Fran , Ramsey, Keri , Anyane-Yeboa, Kwame , Malkin, Elfrida , Chung, Wendy K. , Niyazov, Dmitriy , Pascual, Juan M. , Walkiewicz, Magdalena , Veluchamy, Vivekanand , Li, Chumei , Hisama, Fuki M. , de Vries, Bert B.A. and Schaaf, Christian
Publisher
New York: Elsevier Inc
Journal title
Language
English
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Publication information
Publisher
New York: Elsevier Inc
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More information
Scope and Contents
Contents
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of-function mutations in NR2F1. We report 20 new individuals with BBSOAS, exploring the spectrum of clinical phenotypes and assessing potential genotype–phenotype correlations.
Clinical...
Alternative Titles
Full title
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
Authors, Artists and Contributors
Author / Creator
Bosch, Daniëlle G.M.
Cho, Megan T.
Rosenfeld, Jill A.
Shinawi, Marwan
Lewis, Richard Alan
Mann, John
Jayakar, Parul
Payne, Katelyn
Walsh, Laurence
Moss, Timothy
Schreiber, Allison
Schoonveld, Cheri
Monaghan, Kristin G.
Elmslie, Frances
Douglas, Ganka
Boonstra, F. Nienke
Millan, Francisca
Cremers, Frans P.M.
McKnight, Dianalee
Richard, Gabriele
Juusola, Jane
Kendall, Fran
Ramsey, Keri
Anyane-Yeboa, Kwame
Malkin, Elfrida
Chung, Wendy K.
Niyazov, Dmitriy
Pascual, Juan M.
Walkiewicz, Magdalena
Veluchamy, Vivekanand
Li, Chumei
Hisama, Fuki M.
de Vries, Bert B.A.
Schaaf, Christian
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_1842142407
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1842142407
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2016.18
