Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient.

Tripon, Florin; BogliÈ, Alina; Micheu, Cristian; StreaÈa, Ioana; Banescu, Claudia

Tripon, Florin; BogliÈ, Alina; Micheu, Cristian; StreaÈa, Ioana; Banescu, Claudia.

Affiliation

Tripon F; Laboratory of Medical Genetics, Emergency Clinical County Hospital Târgu MureÈ, 540136 Târgu MureÈ, Romania.
BogliÈ A; Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu MureÈ, 540142 Târgu MureÈ, Romania.
Micheu C; Laboratory of Molecular Biology/Genetics, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu MureÈ, 540142 Târgu MureÈ, Romania.
StreaÈa I; Laboratory of Medical Genetics, Emergency Clinical County Hospital Târgu MureÈ, 540136 Târgu MureÈ, Romania.
Banescu C; Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu MureÈ, 540142 Târgu MureÈ, Romania.

Genes (Basel) ; 11(6)2020 05 28.

Article in En | MEDLINE | ID: mdl-32481733

Subject(s)

Hyperventilation/genetics; Intellectual Disability/genetics; Transcription Factor 4/genetics; Child, Preschool; Exons/genetics; Facies; Humans; Hyperventilation/diagnosis; Hyperventilation/physiopathology; Intellectual Disability/diagnosis; Intellectual Disability/physiopathology; Male; Phenotype

Key words

Face2Gene; Pitt-Hopkins syndrome; TCF4 deletion; neurodevelopment disorder

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factor 4 / Hyperventilation / Intellectual Disability Type of study: Diagnostic_studies / Screening_studies Limits: Child, preschool / Humans / Male Language: En Journal: Genes (Basel) Year: 2020 Type: Article Affiliation country: Romania

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