Literature DB >> 24458706

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

Mónica Martínez García1, Camilo Velez, María Fenollar-Cortés, Ana Bustamante, Isabel Lorda-Sanchez, Leandro Soriano-Guillén, María-José Trujillo-Tiebas.   

Abstract

Entities:  

Keywords:  Behavior; Costello syndrome; LEOPARD syndrome; Noonan syndrome; Noonan-like syndrome with loose anagen hair; RAS/MAPK cascade; cardiofaciocutaneous syndrome; genotype-phenotype correlation analyses

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Year:  2014        PMID： 24458706     DOI： 10.1002/ajmg.a.36378

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.

Authors:  Wen Zhang; Huasong Zeng; Yonglan Huang; Ting Xie; Jipeng Zheng; Xiaoyuan Zhao; Huiying Sheng; Hongsheng Liu; Li Liu
Journal:  Metab Brain Dis       Date:  2016-03-28       Impact factor: 3.584

2.  Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.

Authors:  Geun-Young Park; Dae-Hyun Jang; Dong-Woo Lee; Ja-Hyun Jang; Joungsu Joo
Journal:  Front Genet       Date:  2019-10-31       Impact factor: 4.599

3.  SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.

Authors:  Helmi Härkönen; Petra Loid; Outi Mäkitie
Journal:  Genes (Basel)       Date:  2021-05-11       Impact factor: 4.096
  3 in total

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