Publications:

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

American Journal Of Medical Genetics. Part A

Zweier, Markus M; Peippo, Maarit M MM; Pöyhönen, Minna M; Kääriäinen, Helena H; Begemann, Anaïs A; Joset, Pascal P; Oneda, Beatrice B; Rauch, Anita A

Publication Date: 2017-05

Variant appearance in text: CREBBP: 4110G>A

PubMed Link: 28323383

Variant Present in the following documents:

• Main text
• AJMG-173-1440.pdf

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