Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity-Reference-Cited by-同舟云学术

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity

Published:2010-11-25 Issue:2 Volume:81 Page:158-164
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Ahmad Z,Phadke SR,Arch E,Glass J,Agarwal AK,Garg A

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01580.x/fullpdf

Reference24 articles.

1. Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.;Kariminejad;Saudi Med J,2009

2. Prenatal diagnosis of restrictive dermopathy.;Jagadeesh;Indian Pediatr,2009

3. Restrictive dermopathy - a lethal congenital laminopathy. Case report and review of the literature.;Morais;Eur J Pediatr,2009

4. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of lamin A precursors.;Navarro;Hum Mol Genet,2005

5. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.;Moulson;J Invest Dermatol,2005

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1. An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon;Gene;2022-07

2. Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature;Pediatric Dermatology;2021-10-14

3. Prenatal Diagnosis for Restrictive Dermopathy Caused by Novel Mutations in ZMPSTE24 Gene and Review of Clinical Features and Pathogenic Mutations Described in Literatures;SN Comprehensive Clinical Medicine;2020-02-05

4. Vesiculopustular, Bullous and Erosive Diseases of the Neonate;Harper's Textbook of Pediatric Dermatology;2019-11-20

5. Hyalinoses, Stiff Skin Syndrome and Restrictive Dermopathy;Harper's Textbook of Pediatric Dermatology;2019-11-20