A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome.

Uzman, Ceren Yilmaz; Gürsoy, Semra; Hazan, Filiz

Uzman, Ceren Yilmaz; Gürsoy, Semra; Hazan, Filiz.

Affiliation

Uzman CY; Department of Pediatric Genetics, S.B.Ü. Dr. Behçet Uz Children's Education and Research Hospital, Izmir, Turkey.
Gürsoy S; Department of Pediatric Genetics, S.B.Ü. Dr. Behçet Uz Children's Education and Research Hospital, Izmir, Turkey.
Hazan F; Department of Medical Genetics, S.B.Ü. Dr. Behçet Uz Children's Education and Research Hospital, Izmir, Turkey.

Int J Dev Neurosci ; 83(5): 479-485, 2023 Aug.

Article in En | MEDLINE | ID: mdl-37336770

Subject(s)

Intellectual Disability; Infant, Newborn; Humans; Intellectual Disability/complications; Intellectual Disability/genetics; NFI Transcription Factors/genetics; Phenotype; Mutation/genetics

Key words

Malan syndrome; Marshall-Smith syndrome; NFIX gene; overgrowth

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intellectual Disability Limits: Humans / Newborn Language: En Journal: Int J Dev Neurosci Year: 2023 Document type: Article Affiliation country: Turkey Country of publication: United States

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