Results 81 to 90 of about 206 (103)

Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Ophthalmic Genetics, 2019
Background: Nuclear hormone receptor gene, NR2F1, plays a key role in brain and eye development. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS, MIM #615772) is an autosomal dominant hereditary disorder caused by mutations in this gene.
Sung Eun Park, Jihei Sara Lee, Seung－Tae Lee   +2 more
exaly   +2 more sources

Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome

Clinical Genetics
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disease characterized by developmental delay, intellectual disability, and optic atrophy with a variable expression of other clinical features (dysmorphic features, autistic ...
Nina Pereza, Sasa Ostojic, Alenka Hodzic   +2 more
exaly   +2 more sources

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A severe case of Bosch–Boonstra–Schaaf optic atrophy syndrome with a novel description of coloboma and septo‐optic dysplasia, owing to a start codon variant in the NR2F1 gene

American Journal of Medical Genetics, Part A, 2022
Gabriella Gazdagh, Rebecca Mawby, Jay E Self   +2 more
exaly  

NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

Human Mutation, 2022
Patrizia Amati-Bonneau, Valerie Desquiret-Dumas, Dan Milea   +2 more
exaly  

Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism

European Journal of Medical Genetics, 2023
Catheline Vilain, Koenraad Devriendt, Ingele Casteels   +2 more
exaly  

Optic atrophy in Wolfram syndrome

Ophthalmic Paediatrics and Genetics, 1986
J R M Cruysberg
exaly  

Optic Atrophy in Marinesco-Sjögren Syndrome: An Additional Ocular Feature: Report of three Cases in two Families

Ophthalmic Paediatrics and Genetics, 1993
A M Bardelli, Nicola De Stefano, A Malandrini   +2 more
exaly