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Paper Details

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
72
2019
ARID1B, ARID1B-ID, ARID1B-related disorders, CSS, Coffin-Siris, Coffin-Siris syndrome, Human, ID, absent fifth distal phalanx, dysmorphic features, gene, hypertrichosis, intellectual disability, nonsyndromic intellectual disability, patients
Author NameAffiliation
Denise HornInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin
H??lya KayseriliKoc University School of Medicine (KUSoM)
Sarju G MehtaCambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital
Anneke T Vulto-van SilfhoutDonders Institute for Brain, Radboud University Medical Center
Evan E EichlerUniversity of Washington School of Medicine
Evan E EichlerUniversity of Washington School of Medicine
Bert B A de VriesDonders Institute for Brain, Radboud University Medical Center
Jill Clayton-SmithSt Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre
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Datasets

Dataset
Description
Source Link
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Release 1.2