Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia-Reference-Cited by-同舟云学术

Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia

Published:2014-01-23 Issue:4 Volume:164 Page:1075-1078
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

García Mónica Martínez¹²,Velez Camilo¹²,Fenollar-Cortés María³,Bustamante Ana¹²,Lorda-Sanchez Isabel¹²,Soriano-Guillén Leandro⁴,Trujillo-Tiebas María-José¹²

Affiliation:

1. Servicio de Genética del Hospital Fundación Jiménez Díaz de Madrid; Madrid Spain

2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Madrid Spain

3. Sección de Genética Clínica; Servicio de Análisis Clínicos en el Hospital Clínico San Carlos de Madrid; Madrid Spain

4. Servicio de Pediatría del Hospital Fundación Jiménez Díaz de Madrid; Madrid Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference13 articles.

1. Recessive multiple epiphyseal dysplasia (rMED): Phenotype delineation in eighteen homozygotes for DTDST mutation R279W;Ballhausen;J Med Genet,2003

2. Clinical and molecular characterization of diastrophic dysplasia in the Portuguese population;Barbosa;Clin Genet,2011

3. A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia;Bonafé;J Med Genet,2008

4. Bonafé L Mittaz-Crettol L Ballhausen D Ballhausen D Superti-Furga A 2010 Multiple epiphyseal dysplasia, recessive-GeneReviews ™-NCBI Bookshelf. [Updated 2010 Mar 18] Pagon RA Bird TD Dolan CR Seattle University of Washington http://www.ncbi.nlm.nih.gov/books/NBK1306/ 1 11

5. Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities;Fassihi;J Invest Dermatol,2006

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3. Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy;Taiwanese Journal of Obstetrics and Gynecology;2020-11

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