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先天性甲状腺功能减退症、毛发粗糙及腭裂。

Congenital hypothyroidism, spiky hair, and cleft palate.

作者信息

Bamforth J S, Hughes I A, Lazarus J H, Weaver C M, Harper P S

机构信息

Institute of Medical Genetics, University of Wales, College of Medicine, Heath Park, Cardiff.

出版信息

J Med Genet. 1989 Jan;26(1):49-51. doi: 10.1136/jmg.26.1.49.

DOI:10.1136/jmg.26.1.49
PMID:2918525
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015536/
Abstract

Two brothers are described with athyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, and bifid epiglottis. Polyhydramnios was present in the third trimester of each pregnancy. These abnormalities appear to represent a new syndrome.

摘要

描述了两兄弟患有先天性甲状腺功能减退症、头发呈穗状、后鼻孔闭锁、腭裂和会厌裂。每次怀孕的孕晚期均出现羊水过多。这些异常似乎代表一种新的综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82d0/1015536/c493ddca8256/jmedgene00051-0059-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82d0/1015536/6820f5d20c11/jmedgene00051-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82d0/1015536/c493ddca8256/jmedgene00051-0059-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82d0/1015536/6820f5d20c11/jmedgene00051-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82d0/1015536/c493ddca8256/jmedgene00051-0059-b.jpg

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本文引用的文献

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J Pediatr. 1981 Feb;98(2):223-7. doi: 10.1016/s0022-3476(81)80639-7.
2
A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.一种包括先天性鼻翼发育不全、耳聋、甲状腺功能减退、侏儒症、恒牙缺失和吸收不良的综合征。
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A distinctive type of hypohidrotic ectodermal dysplasia featuring hypothyroidism.
foxe1突变斑马鱼表现出甲状腺功能减退表型的迹象，并且对乙醇诱导的颅面畸形敏感性增加。
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Identification of Germline and Somatic Pathway Gene Alterations in Patients with Malignant Struma Ovarii, Cleft Palate and Thyroid Cancer.鉴定恶性卵巢甲状腺肿、腭裂和甲状腺癌患者的种系和体细胞通路基因改变。
Int J Mol Sci. 2024 Feb 6;25(4):1966. doi: 10.3390/ijms25041966.
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Disruption of the gene in zebrafish reveals conserved functions in development of the craniofacial skeleton and the thyroid.斑马鱼中该基因的破坏揭示了在颅面骨骼和甲状腺发育中的保守功能。
Front Cell Dev Biol. 2023 Mar 13;11:1143844. doi: 10.3389/fcell.2023.1143844. eCollection 2023.
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Hormones (Athens). 2021 Jun;20(2):225-236. doi: 10.1007/s42000-020-00267-x. Epub 2021 Jan 5.
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