17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.

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17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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17q12 deletion and duplication ...... and review of the literature.

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17q12 deletion and duplication ...... and review of the literature.

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17q12 deletion and duplication ...... and review of the literature.

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17q12 deletion and duplication ...... and review of the literature.

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17q12 deletion and duplication ...... and review of the literature.

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17q12 deletion and duplication ...... and review of the literature.

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P1476

17q12 deletion and duplication ...... s and review of the literature

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P2093

Charlotte Brasch-Andersen

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Dea Svaneby

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Else Marie Vestergaard

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Jesper Graakjaer

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Maria Kibaek

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Maria Rasmussen

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Yanko Petkov

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Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.

Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

Copy number variation in schizophrenia in Sweden

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

Duplications of 17q12 can cause familial fever-related epilepsy syndromes.

Estimates of penetrance for recurrent pathogenic copy-number variations.

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2934-2942

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scholarly article

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10.1002/AJMG.A.37848

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English

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170

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P577

2016-07-13T00:00:00Z

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27409573

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