Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Author:

Sirmaci Asli,Spiliopoulos Michail,Brancati Francesco,Powell Eric,Duman Duygu,Abrams Alex,Bademci Guney,Agolini Emanuele,Guo Shengru,Konuk Berrin,Kavaz Asli,Blanton Susan,Digilio Maria Christina,Dallapiccola Bruno,Young Juan,Zuchner Stephan,Tekin Mustafa

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. KBG syndrome in a cohort of Italian patients;Brancati;Am. J. Med. Genet. A.,2004

2. Six additional cases of the KBG syndrome: Clinical reports and outline of the diagnostic criteria;Zollino;Am. J. Med. Genet.,1994

3. KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria;Skjei;Am. J. Med. Genet. A.,2007

4. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies;Herrmann;Birth Defects Orig. Artic. Ser.,1975

5. The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype;Tekin;Am. J. Med. Genet. A.,2004

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