A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation-Reference-Cited by-同舟云学术

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation

Published:2010-10-14 Issue:11 Volume:152A Page:2838-2844
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Furtado Larissa V.,Bayrak-Toydemir Pinar,Hulinsky Becki,Damjanovich Kristy,Carey John C.,Rope Alan F.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Methylation of HPAII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

2. X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male;Aughton;Am J Med Genet Part A,2003

3. Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hunermann syndrome;Braverman;Nat Genet,1999

4. Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata;Derry;Nat Genet,1999

5. Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis);Feldmeyer;Br J Dermatol,2006

Cited by 30 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. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;Fluids and Barriers of the CNS;2024-03-04

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

3. Relationship Between Hypomorphic Alleles and Mosaicism of X-Linked or Autosomal Mutations;Mosaicism in Human Skin;2022-11-24

4. Thermostabilization of Membrane Proteins by Consensus Mutation: A Case Study for a Fungal Δ8-7 Sterol Isomerase;Journal of Molecular Biology;2020-08

5. Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes;Molecular Genetics & Genomic Medicine;2019-08-08