Publication:

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

Date

Date

Date
2017
Journal Article
Published version

Citations

Citation copied

Zweier, M., Peippo, M. M., Pöyhönen, M., Kääriäinen, H., Begemann, A., Joset, P., Oneda, B., & Rauch, A. (2017). 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, 173, 1440–1443. https://doi.org/10.1002/ajmg.a.38143

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2 since deposited on 2017-11-13
Acq. date: 2025-11-13

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2 since deposited on 2017-11-13
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Acq. date: 2025-11-13

Additional indexing

Creators (Authors)

  • Zweier, Markus
    affiliation.icon.alt
  • Peippo, Maarit M
    affiliation.icon.alt
  • Pöyhönen, Minna
    affiliation.icon.alt
  • Kääriäinen, Helena
    affiliation.icon.alt
  • Joset, Pascal
    affiliation.icon.alt
  • Oneda, Beatrice
    affiliation.icon.alt
  • Rauch, Anita
    affiliation.icon.alt

Journal/Series Title

Journal/Series Title

Journal/Series Title

Volume

Volume

Volume
173

Number

Number

Number
5

Page range/Item number

Page range/Item number

Page range/Item number
1440

Page end

Page end

Page end
1443

Item Type

Item Type

Item Type
Journal Article

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Keywords

ARID1B, Coffin-Siris syndrome, HHID, abnormal corpus callosum, hyperkeratosis, hypertrichosis, intellectual disability, minor anomalies

Language

Language

Language
English

Publication date

Publication date

Publication date
2017-05

Date available

Date available

Date available
2017-11-13

Publisher

Publisher

Publisher

ISSN or e-ISSN

ISSN or e-ISSN

ISSN or e-ISSN
1552-4825

OA Status

OA Status

OA Status
Hybrid

Free Access at

Free Access at

Free Access at
Pubmed ID

PubMed ID

PubMed ID

PubMed ID

Metrics

Downloads

2 since deposited on 2017-11-13
Acq. date: 2025-11-13

Views

2 since deposited on 2017-11-13
1last week
Acq. date: 2025-11-13

Citations

Citation copied

Zweier, M., Peippo, M. M., Pöyhönen, M., Kääriäinen, H., Begemann, A., Joset, P., Oneda, B., & Rauch, A. (2017). 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, 173, 1440–1443. https://doi.org/10.1002/ajmg.a.38143

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