A novel homozygousERCC5truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation-Reference-Cited by-同舟云学术

A novel homozygousERCC5truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation

Author:

Drury Suzanne¹^ORCID,Boustred Christopher¹,Tekman Mehmet²,Stanescu Horia²,Kleta Robert²,Lench Nicholas¹,Chitty Lyn S.¹³⁴,Scott Richard H.¹³

Affiliation:

1. NE Thames Regional Genetics Service; Great Ormond Street Hospital for Children; London United Kingdom

2. Division of Medicine; UCL; London United Kingdom

3. Genetics and Genomic Medicine; UCL Institute of Child Health; London United Kingdom

4. UCLH NHS Foundation Trust; London United Kingdom

Funder

Great Ormond Street Hospital Children's Charity

NIHR Biomedical Research Centre at Great Ormond Street Hospital

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference21 articles.

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