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Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1.

作者信息

Park Hae Yeon, Kim Myungshin, Jang Woori, Jang Dae Hyun

机构信息

Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary's Hospital, Incheon, Korea.

Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.

出版信息

Ann Lab Med. 2017 Nov;37(6):563-565. doi: 10.3343/alm.2017.37.6.563.

DOI:10.3343/alm.2017.37.6.563
PMID:28841002
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5587837/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13bb/5587837/c1ab98f9f186/alm-37-563-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13bb/5587837/cd2e76e5da15/alm-37-563-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13bb/5587837/c1ab98f9f186/alm-37-563-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13bb/5587837/cd2e76e5da15/alm-37-563-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13bb/5587837/c1ab98f9f186/alm-37-563-g002.jpg

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Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1.一名患有包含AHDC1基因的1p36.11-p35.3间质性缺失患者的表型
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本文引用的文献

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Appl Clin Genet. 2015 Aug 27;8:189-200. doi: 10.2147/TACG.S65698. eCollection 2015.
2
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.在伴有综合征性表达性语言迟缓、肌张力减退和睡眠呼吸暂停的个体中，AHDC1 中的从头截短突变。
Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006.
3
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.使用阵列比较基因组杂交技术鉴定近端1p36缺失：一种可能的新综合征。
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Mol Syndromol. 2024 Feb;15(1):63-70. doi: 10.1159/000530410. Epub 2023 Sep 8.
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Novel frameshift mutation in the gene in a Chinese global developmental delay patient: A case report.一名中国全球发育迟缓患者基因中的新型移码突变：病例报告。
World J Clin Cases. 2022 Jul 26;10(21):7517-7522. doi: 10.12998/wjcc.v10.i21.7517.
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Hum Mutat. 2022 Dec;43(12):2033-2053. doi: 10.1002/humu.24461. Epub 2022 Sep 24.
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