Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus-Reference-Cited by-同舟云学术

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

Published:2018-03-02 Issue:1 Volume:19 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Al-Jezawi Nesreen K.,Al-Shamsi Aisha M.,Suleiman Jehan,Ben-Salem Salma,John Anne,Vijayan Ranjit,Ali Bassam R.^ORCID,Al-Gazali Lihadh

Funder

United Arab Emirates University

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0540-x.pdf

Reference40 articles.

1. Tully HM, Dobyns WB. Infantile hydrocephalus: a review of epidemiology, classification and causes. Eur J Med Genet. 2014;57(8):359–68.

2. Vintzileos AM, Ingardia CJ, Nochimson DJ. Congenital hydrocephalus: a review and protocol for perinatal management. Obstet Gynecol. 1983;62(5):539–49.

3. Munch TN, Rostgaard K, Rasmussen MLH, Wohlfahrt J, Juhler M, Melbye M. Familial aggregation of congenital hydrocephalus in a nationwide cohort. Brain. 2012;135(8):2409–15.

4. Schrander-Stumpel C, Fryns JP. Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling. Eur J Pediatr. 1998;157(5):355–62.

5. Abdul-Karim R, Iliya F, Iskandar G. Consecutive hydrocephalus: report of two cases. Obstet Gynecol. 1964;24:376–8.

Cited by 13 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. Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature;Clinical Genetics;2024-06-10

2. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;Fluids and Barriers of the CNS;2024-03-04

3. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;2023-12-04

4. The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement;Brain Communications;2022-12-29

5. Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family;Cells;2022-11-14