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  4. DOORS syndrome: Phenotype, genotype and comparison with coffin-siris syndrome
Details

DOORS syndrome: Phenotype, genotype and comparison with coffin-siris syndrome

Journal
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
ISSN
1552-4868
Date Issued
2014
Author(s)
Philippe M. Campeau
Raoul C. Hennekam
REPETTO LISBOA, MARIA GABRIELA  
Facultad de Medicina Clínica Alemana Universidad del Desarrollo  
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-84908621909
DOI
10.1002/ajmg.c.31412
URL
https://investigadores.udd.cl/handle/123456789/3158
Cite this document
Campeau, P. M., Hennekam, R. C., & The DOORS syndrome collaborative group. (2014). DOORS syndrome: Phenotype, genotype and comparison with Coffin‐Siris syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 166(3), 327-332. https://doi.org/10.1002/ajmg.c.31412
Subjects
deafness

; 

door syndrome

; 

doors syndrome

; 

genotypephenotype correlation

; 

intellectual disability

; 

phenotype

; 

seizures

; 

smarcb1
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