Unraveling the pathogenesis of arx polyalanine tract variants using a clinical and molecular interfacing approach

Molecular Genetics and Genomic Medicine

Volumn 3, Issue 3, 2015, Pages 203-214

  Marques, Isabel ^a,b   Sa, Maria Joao ^a,b   Soares, Gabriela ^a   Mota, Maria Do Ceu ^c   Pinheiro, Carla ^d   Aguiar, Lisa ^e   Amado, Marta ^f   Soares, Christina ^f   Calado, Angelina ^f   Dias, Patrıcia ^g   Sousa, Ana Berta ^g   Fortuna, Ana Maria ^a,b   Santos, Rosario ^a,b   Howell, Katherine B ^h,i,j   Ryan, Monique M ^h,i,j   Leventer, Richard J ^h,i,j   Sachdev, Rani ^k   Catford, Rachael ^l   Friend, Kathryn ^l   Mattiske, Tessa R ^m,n   Shoubridge, Cheryl ^m,n   Jorge, Paula ^a,b   more..

^a UP   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c Institute of Biomedical Sciences Abel Salazar   (Portugal)

^d Hospital Santa Maria Maior   (Portugal)

^e Hospital Distrital de Santarm   (Portugal)

^f HOSPITAL DE FARO   (Portugal)

^g HOSPITAL DE SANTA MARIA   (Portugal)

^h ROYAL CHILDREN'S HOSPITAL   (Australia)

ⁱ MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^j UNIVERSITY OF MELBOURNE   (Australia)

^k SYDNEY CHILDREN'S HOSPITAL   (Australia)

^l WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^m UNIVERSITY OF ADELAIDE   (Australia)

ⁿ UNIVERSITY OF ADELAIDE   (Australia)

more..

Author keywords

Aristaless related homeobox gene; ARX; Expanded polyalanine tract; Intellectual disability; Pathogenic variant

Indexed keywords

EID: 84962046752     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.133     Document Type: Article

References (42)

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