Haploinsufficiency of <i>NKX2-1</i> is likely to contribute to developmental delay involving 14q13 microdeletions.

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作者： Osamu,Machida ^[1] ; Haruko,Sakamoto ^[2] ; Keiko Shimojima,Yamamoto ^[3] ; Yuiko,Hasegawa ^[4] ; Satoi,Nii ^[5] ; Hidenori,Okada ^[6] ; Kazuki,Nishikawa ^[7] ; Shin-Ichi,Sumimoto ^[4] ; Eriko,Nishi ^[3] ; Nobuhiko,Okamoto ^[3] ; Toshiyuki,Yamamoto ^[4]

作者单位： Division of Gene Medicine, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan. ^[1] Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan. ^[2] Department of Pediatrics, Japanese Red Cross Osaka Hospital, Osaka, Japan. ^[3] Otemae Rehabilitation Center for Children, Japanese Red Cross Osaka Hospital, Osaka, Japan. ^[4] Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan. ^[5] Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. ^[6] Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan. ^[7]

关键词 Brain-lung-thyroid syndrome chromosomal microarray testing language delay movement disorder

DOI 10.5582/irdr.2023.01119

PMID 38404736

发布时间 2024-02-27

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Intractable & rare diseases research

2024年13卷1期

36-41页

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Haploinsufficiency of <i>NKX2-1</i> is likely to contribute to developmental delay involving 14q13 microdeletions.

Intractable & rare diseases research

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Intractable & rare diseases research

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Haploinsufficiency of <i>NKX2-1</i> is likely to contribute to developmental delay involving 14q13 microdeletions.

Intractable & rare diseases research

相似文献

Intractable & rare diseases research

相关期刊

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