Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

Publisher： John Wiley & Sons Inc

E-ISSN： 1399-0004|88|3|224-233

ISSN： 0009-9163

Source： CLINICAL GENETICS, Vol.88, Iss.3, 2015-09, pp. : 224-233

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Phenotypic spectrum associated with de novo mutations in QRICH1 gene

By  

CLINICAL GENETICS, Vol. 93, Iss. 2, 2018-02 ,pp. : 286-292

John Wiley & Sons Inc

Access to resources Recommend Favorite

The Developmental Trajectory of Self-Injurious Behaviours in Individuals with Prader Willi Syndrome, Autism Spectrum Disorder and Intellectual Disability

By Rice Lauren J.   Gray Kylie M.   Howlin Patricia   Taffe John   Tonge Bruce J.   Einfeld Stewart L.  

Diseases, Vol. 4, Iss. 1, 2016-02 ,pp. : 9-9

MDPI

Access to resources Recommend Favorite

Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia

By  

CLINICAL GENETICS, Vol. 87, Iss. 3, 2015-03 ,pp. : 293-295

John Wiley & Sons Inc

Access to resources Recommend Favorite

Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder

By Mullegama Sureni V.   Alaimo Joseph T.   Chen Li   Elsea Sarah H.  

International Journal of Molecular Sciences, Vol. 16, Iss. 4, 2015-04 ,pp. : 7627-7643

MDPI

Access to resources Recommend Favorite

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

By  

HUMAN MUTATION, Vol. 36, Iss. 8, 2015-08 ,pp. : 787-796

John Wiley & Sons Inc

Access to resources Recommend Favorite