Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism
Author:
Funder
Koning Boudewijnstichting
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference20 articles.
1. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay;Al-Kateb;Am. J. Med. Genet.,2013
2. The nuclear receptors COUP-TF: a long-lasting experience in forebrain assembly;Alfano;Cell. Mol. Life Sci.,2014
3. COUP-TFI regulates the balance of cortical patterning between frontal/motor and sensory areas;Armentano;Nat. Neurosci.,2007
4. Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome;Bertacchi;EMBO Mol. Med.,2019
5. NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome;Billiet;Hum. Mutat.,2022
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