Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.

Al Masseri, Zainab; AlSayed, Moeenaldeen

Al Masseri, Zainab; AlSayed, Moeenaldeen.

Affiliation

Al Masseri Z; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
AlSayed M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Mol Genet Metab Rep ; 31: 100864, 2022 Jun.

Article in En | MEDLINE | ID: mdl-35782616

Key words

Chorea; Dystonia; EEIE17; EEIE17, Early infantile epileptic encephalopathy 17; Gonadal; Involuntary; Mosaicism; Movements; NEDIM; NEDIM, Neurodevelopmental disorder with involuntary movements; Neurodevelopmental

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2022 Type: Article Affiliation country: Saudi Arabia

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2022 Type: Article Affiliation country: Saudi Arabia