MUTATIONS IN LAMB2 ARE ASSOCIATED WITH FSGS AND SEPTO-OPTIC DYSPLASIA

Tahoun Mona; Hasson Scott; Ashton Emma; Dattani Mehul; Waters Aoife

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MUTATIONS IN LAMB2 ARE ASSOCIATED WITH FSGS AND SEPTO-OPTIC DYSPLASIA

机译：Lamb2中的突变与FSG和散侧光学发育不良相关联

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来源
《Pediatric nephrology: journal of the International Pediatric Nephrology Association》 |2017年第9期|共1页
作者
Tahoun Mona; Hasson Scott; Ashton Emma; Dattani Mehul; Waters Aoife;
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作者单位

Ucl Great Ormond St Inst Child Hlth London England;

Ucl Great Ormond St Inst Child Hlth London England;

Great Ormond St Hosp Nhs Fdn Trust London England;

Ucl Great Ormond St Inst Child Hlth London England;

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正文语种 eng
中图分类儿科学;
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入库时间 2022-08-20 06:02:47

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1. MUTATIONS IN LAMB2 ARE ASSOCIATED WITH FSGS AND SEPTO-OPTIC DYSPLASIA [J] . Tahoun Mona, Hasson Scott, Ashton Emma, Pediatric nephrology: journal of the International Pediatric Nephrology Association . 2017,第9期

机译：Lamb2中的突变与FSG和散侧光学发育不良相关联
2. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. [J] . Thomas PQ, Dattani MT, Brickman JM, Human Molecular Genetics . 2001,第1期

机译：与孤立的先天性垂体发育不全和视光发育不良相关的杂合子HESX1突变。
3. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse [J] . Dattani MT., Thomas PQ., Brickman JM., Nature Genetics . 1998,第2期

机译：同源框基因HESX1 / Hesx1的突变与人和小鼠的视光发育异常
4. RUNX2/CBFA1 Mutations in Cleidocranial Dysplasia: Phenotypic and Structure/Function Correlations [C] . Kim McBride, Dobrawa Napierala, Yuqing Chen, Falk Symposium . 2002

机译：Cleidocanial dysplasia中的Runx2 / CBFA1突变：表型和结构/功能相关性
5. Elucidating the role of Transient Receptor Potential Channel Vanilloid 4 (TRPV4) mutation on channel activity and chondrocyte function in metatropic dysplasia. [D] . Hurd, Lauren M. 2015

机译：阐明了短暂受体潜在通道香草酸4（TRPV4）突变在嗜异型发育异常中对通道活性和软骨细胞功能的作用。
6. Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report [O] . A. Fernández-Marmiesse, M. S. Pérez-Poyato, A. Fontalba, 2019

机译：新型FLNA剪接位点突变引起的视光发育不良：一例报告
7. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia [O] . P. Q. Thomas 2001

机译：与孤立的先天性垂体发育性和近距离发育不良相关的杂合子HESX1突变

MUTATIONS IN LAMB2 ARE ASSOCIATED WITH FSGS AND SEPTO-OPTIC DYSPLASIA

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