Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing-Reference-Cited by-同舟云学术

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Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing

Published:2017-08-03 Issue:6 Volume:92 Page:645-648
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Sharony R.¹²³^ORCID,Borochowitz Z.⁴⁵,Cohen L.³⁶⁷,Shtorch-Asor A.¹,Rosenfeld R.¹,Modai S.⁸,Reinstein E.¹³^ORCID

Affiliation:

1. Medical Genetics Institute; Meir Medical Center; Kfar Saba Israel

2. Department of Obstetrics and Gynecology; Meir Medical Center; Kfar Saba Israel

3. Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

4. Rappaport Faculty of Medicine; Technion Israeli Institute of Technology; Haifa Israel

5. Genetics Clinic; Assuta Medical Center; Haifa Israel

6. Raphael Recanati Genetics Institute; Rabin Medical Center, Beilinson Campus; Petah Tikva 4941492 Israel

7. Pediatric Genetics Unit; Schneider Children's Medical Center of Israel; Petah Tikva 49202 Israel

8. Clinical Operations; Variantyx, Inc; Herzliya Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13020/fullpdf

Reference10 articles.

1. Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia;Lausch;Am J Hum Genet,2009

2. Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia;Li;Eur J Hum Genet,2015

3. MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type;Bonafe;Am J Med Genet,2014

4. Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia;Reinstein;Hum Mutat,2015

5. Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course;Maroteaux;Am J Med Genet,1991

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