The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics. Part A 2017-05, Vol.173 (5), p.1440-1443
Hauptverfasser:	Zweier, Markus, Peippo, Maarit M., Pöyhönen, Minna, Kääriäinen, Helena, Begemann, Anaïs, Joset, Pascal, Oneda, Beatrice, Rauch, Anita
Format:	Artikel
Sprache:	eng
Schlagworte:	abnormal corpus callosum Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Adolescent Adult Agenesis of Corpus Callosum - diagnosis Agenesis of Corpus Callosum - genetics ARID1B Child Coffin‐Siris syndrome Corpus callosum DNA-Binding Proteins - genetics Facies Female Genetic Association Studies HHID Humans hyperkeratosis Hyperkeratosis, Epidermolytic - diagnosis Hyperkeratosis, Epidermolytic - genetics Hypertrichosis Hypertrichosis - diagnosis Hypertrichosis - genetics Intellectual disabilities intellectual disability Intellectual Disability - diagnosis Intellectual Disability - genetics minor anomalies Mutation Phenotype Research Letter Research Letters Transcription Factors - genetics Whole Exome Sequencing Young Adult
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