Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata-Reference-Cited by-同舟云学术

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Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata

Published:2003-01-01 Issue:1 Volume:112 Page:78-83
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Shirahama Shuya,Miyahara Akira,Kitoh Hiroshi,Honda Akira,Kawase Akihiko,Yamada Koki,Mabuchi Akihiko,Kura Hideji,Yokoyama Yasunobu,Tsutsumi Masayoshi,Ikeda Toshiyuki,Tanaka Naomi,Nishimura Gen,Ohashi Hirofumi,Ikegawa Shiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-002-0844-x.pdf

Cited by 39 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

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2. Fetal Flat-Facies on Prenatal Ultrasound: Is it Chondrodysplasia Punctata? A Retrospective Chart Review of 62 Fetuses;Journal of Fetal Medicine;2022-04-20

3. A case of Conradi-Hünermann-Happle syndrome with typical clinical manifestations confirmed by genetic mutation analysis;Indian Journal of Dermatology, Venereology and Leprology;2021-08-01

4. X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus;Medicine;2019-01

5. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome;European Journal of Human Genetics;2018-08-22

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