The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.
Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Markus
M
Zweier
Mehiläinen Clinic, Vantaa, Finland.
Maarit M
MM
Peippo
Department of Clinical Genetics, Helsinki University Central Hospital and Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
Minna
M
Pöyhönen
National Institute for Health and Welfare, Helsinki, Finland.
Helena
H
Kääriäinen
Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.|Radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.
Anaïs
A
Begemann
Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Pascal
P
Joset
Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Beatrice
B
Oneda
Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.|Radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.|Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.|Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland.
Anita
http://orcid.org/0000-0003-2930-3163
A
Rauch
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D061085:Agenesis of Corpus Callosum / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000175:diagnosis / Q000235:genetics*; D006983:Hypertrichosis / Q000175:diagnosis / Q000235:genetics*; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics*; D000073359:Exome Sequencing; D055815:Young Adult
C497837:ARID1B protein, human; D004268:DNA-Binding Proteins; D014157:Transcription Factors
ARID1B; Coffin-Siris syndrome; HHID; abnormal corpus callosum; hyperkeratosis; hypertrichosis; intellectual disability; minor anomalies