First Evidence of Vertical Paternal Transmission of Osteopatia Striata With Cranial Sclerosis-Reference-Cited by-同舟云学术

First Evidence of Vertical Paternal Transmission of Osteopatia Striata With Cranial Sclerosis

Published:2013-03-13 Issue:5 Volume:161 Page:1173-1176
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ciceri Sara¹,Cattaneo Elisa²,Fossati Chiara²,Radice Paolo,Selicorni Angelo²,Perotti Daniela¹

Affiliation:

1. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine; Fondazione IRCCS Istituto Nazionale dei Tumori; Milano; Italy

2. UOS Pediatric Genetic Unit, Pediatric Department; MBBM Foundation, S Gerardo Hospital; Monza; Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35813/fullpdf

Reference11 articles.

1. Osteopathia striata with cranial sclerosis and lumbar spinal stenosis;Deniz;Acta Neurochir (Wien),2007

2. WTX mutations can occur both early and late in the pathogenesis of Wilms tumour;Fukuzawa;J Med Genet,2010

3. The male phenotype in osteopathia striata congenita with cranial sclerosis;Holman;Am J Med Genet Part A,2011

4. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis;Jenkins;Nat Genet,2009

5. Mosaicism in osteopathia striata with cranial sclerosis;Joseph;J Clin Endocrinol Metab,2010

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1. The phenotypic spectrum of AMER1 ‐related osteopathia striata with cranial sclerosis: The first Canadian cohort;American Journal of Medical Genetics Part A;2021-08-20

2. Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1;Journal of Pediatric Genetics;2020-04-21

3. High bone mass due to novel LRP5 and AMER1 mutations;European Journal of Medical Genetics;2017-12

4. Germline mosaicism in osteopathia striata with cranial sclerosis – recurrence in siblings;Clinical Dysmorphology;2016-04

5. Osteopathia striata with cranial sclerosis, Wilms’ tumor and theWTXgene;World Journal of Medical Genetics;2014