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. 2012 Apr;2(3-5):181-185.
doi: 10.1159/000331270. Epub 2011 Sep 8.

Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1

C Zweier  1
Affiliations

Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1

C Zweier. Mol Syndromol. 2012 Apr.

Abstract

While heterozygous variants in CNTNAP2 and NRXN1 are reported as susceptibility factors for neuropsychiatric disorders, homozygous or compound heterozygous defects in either gene were reported as causative for severe neurodevelopmental disorders. This review provides an overview of the clinical aspects in patients with recessive defects in CNTNAP2 and NRXN1.

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Figures

Fig. 1
Fig. 1
Facial appearance of patients with compound heterozygous defects in CNTNAP2 (A) or NRXN1 (B). Note a wide mouth in the patient with NRXN1 defects but otherwise unsuspicious facial gestalts in both patients. Reprinted from Zweier et al. [2009], with permission from Elsevier.
See this image and copyright information in PMC

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