Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.

Bertacchi, Michele; Tocco, Chiara; Schaaf, Christian P; Studer, Michèle

Bertacchi, Michele; Tocco, Chiara; Schaaf, Christian P; Studer, Michèle.

Affiliation

Bertacchi M; Institute of Biology Valrose (IBV), University Côte d'Azur, 06108 Nice, France.
Tocco C; Institute of Biology Valrose (IBV), University Côte d'Azur, 06108 Nice, France.
Schaaf CP; Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany.
Studer M; Institute of Biology Valrose (IBV), University Côte d'Azur, 06108 Nice, France.

Cells ; 11(8)2022 04 08.

Article in En | MEDLINE | ID: mdl-35455940

Subject(s)

Intellectual Disability; Optic Atrophies, Hereditary; Animals; COUP Transcription Factor I/metabolism; Genetic Association Studies; Humans; Intellectual Disability/genetics; Mice; Optic Atrophies, Hereditary/genetics; Optic Atrophies, Hereditary/pathology; Syndrome

Key words

BBSOAS; NR2F1; clinical symptoms; genotype-phenotype correlation; haploinsufficiency; mouse models; neurodevelopmental disorder

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Atrophies, Hereditary / Intellectual Disability Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Cells Year: 2022 Type: Article Affiliation country: France

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