Results 71 to 72 of about 151 (72)
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Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome

Clinical Genetics
Nina Pereza   +2 more
exaly  

A novel NR2F1 -associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome

Ophthalmic Genetics
Takaaki Hayashi   +2 more
exaly  
nr2f1
optic atrophy
humans
bosch–boonstra–schaaf optic atrophy syndrome
animals
optic atrophies, hereditary
mice
intellectual disability
neurodevelopmental disorder
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