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


ABSTRACT:

SUBMITTER: Zweier M 

PROVIDER: S-EPMC5413807 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

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

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  

American journal of medical genetics. Part A 20170321 5


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