A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis
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抄録
CLOVES syndrome is characterized by congenital lipomatous overgrowth, vascular malformation, epidermal nevi, and scoliosis/spinal malformation. It is caused by somatic mosaicism of gain-of-function variants of PIK3CA. Here, we describe a novel case of a 5-year-old Japanese girl with CLOVES and concurrent pancreatic steatosis. She had a recurrent somatic mutation in PIK3CA (NM_006218.3: c.1357G>A, p.Glu453Lys), elevated HbA1c levels, and pancreatic steatosis. This case indicates that pancreatic screening is critical for PIK3CA-related disorders.
収録刊行物
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- Human Genome Variation
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Human Genome Variation 6 31-31, 2019-06-24
Springer Nature
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詳細情報
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- CRID
- 1050856995323034496
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- NII論文ID
- 120006653144
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- ISSN
- 2054345X
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- HANDLE
- 20.500.14094/90006158
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- 本文言語コード
- en
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- 資料種別
- journal article
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- データソース種別
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- IRDB
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- CiNii Articles
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