The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses

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The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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The first Korean patient with ...... re cause of multiple exostoses

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The first Korean patient with ...... re cause of multiple exostoses

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The first Korean patient with ...... re cause of multiple exostoses

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P1476

The first Korean patient with ...... re cause of multiple exostoses

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P2093

Eun-Hae Cho

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Ok-Hwa Kim

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Shin-Young Yim

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Young Bae Sohn

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P2860

Multiple osteochondromas

Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

Glycobiology and the growth plate: current concepts in multiple hereditary exostoses

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.

P304

214-217

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P31

scholarly article

case report

P356

10.3346/JKMS.2015.30.2.214

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P433

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P478

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P50

P577

2015-01-21T00:00:00Z

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P5875

272080762

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P698

25653495

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P932

4310950

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