Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1)-Reference-Cited by-同舟云学术

Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1)

Published:2010-05-17 Issue:3 Volume:36 Page:671-675
ISSN:1341-8076
Container-title:Journal of Obstetrics and Gynaecology Research
language:en
Short-container-title:

Author:

Horikoshi Tsuguhiro,Kikuchi Akihiko,Tamaru Shunsuke,Ono Kyoko,Kita Mariko,Takagi Kimiyo,Miyashita Susumu,Kawame Hiroshi,Shimokawa Osamu,Harada Naoki

Publisher

Wiley

Subject

Obstetrics and Gynecology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1447-0756.2010.01193.x/fullpdf

Reference23 articles.

1. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome;Curry;N Engl J Med,1984

2. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome;Ballabio;Proc Natl Acad Sci USA,1989

3. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata;Nino;Am J Med Genet A,2008

4. Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion;Bick;Prenat Diagn,1992

5. Refinement of the locus for X-linked recessive chondrodysplasia punctata;Muroya;Hum Genet,1995

Cited by 10 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. Diagnosis and Management of Fetal Skeletal Abnormalities;Fetal Medicine;2020

2. Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation;BMC Pediatrics;2019-07-23

3. X-Linked Sensorineural Hearing Loss: A Literature Review;Current Genomics;2018-06-01

4. A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization;Current Genomics;2018-02-20

5. Genetics and pathophysiology of mammalian sulfate biology;Journal of Genetics and Genomics;2017-01