Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss-Reference-Cited by-同舟云学术

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

Published:2010-04 Issue:4 Volume:152A Page:870-874
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kornak Uwe,Brancati Francesco,Le Merrer Martine,Lichtenbelt Klaske,Höhne Wolfgang,Tinschert Sigrid,Garaci Francesco Giuseppe,Dallapiccola Bruno,Nürnberg Peter

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference9 articles.

1. Craniometaphyseal dysplasia-Variability of expression within a large family;Beighton;Clin Genet,1979

2. Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia;Chen;J Bone Miner Res,2009

3. Genetic craniotubular bone dysplasias and hyperostoses: Critical analysis;Gorlin;Birth Defects Orig Art Ser,1969

4. Biochemical and genetic analysis of ANK in arthritis and bone disease;Gurley;Am J Hum Genet,2006

5. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q 21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia;Iughetti;Am J Med Genet,2000

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling;Nature Communications;2021-04-06

2. A three-year clinical investigation of a Chinese child with craniometaphyseal dysplasia caused by a mutated ANKH gene;World Journal of Clinical Cases;2021-03-16

3. Placental Calcification: Long-standing Questions and New Biomedical Research Directions;Contemporary Cardiology;2020

4. Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies;Human Genome Variation;2017-11-02

5. Requirement for Jagged1-Notch2 signaling in patterning the bones of the mouse and human middle ear;Scientific Reports;2017-05-31