# Chromosomal instability in two siblings with gonad deficiency: Case report

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/chromosomal-instability-in-two-siblings-with-gonad-deficiency-case-report/

## Facts

| Field | Value |
| --- | --- |
| Author Names | J. Lespinasse,P. Hoffmann,Anthony Laugé,Dominique Stoppa‐Lyonnet,F Felmann,J.‐C. Pons,Gaëtan Lesca |
| Citations | 74 |
| DOI | 10.1093/humrep/deh584 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://academic.oup.com/humrep/article-pdf/20/1/158/1954460/deh584.pdf |
| OpenAlex ID | https://openalex.org/W2166001243 |
| PMID | 15576395 |
| Type | article |
| Year | 2004 |

## Paper authors

- [J.‐C. Pons](https://scholariq.org/researchers/j-c-pons/)

## Paper primary topic

- [DNA Repair Mechanisms](https://scholariq.org/topics/dna-repair-mechanisms/)

## Paper topics

- [DNA Repair Mechanisms](https://scholariq.org/topics/dna-repair-mechanisms/)
- [Prenatal Screening and Diagnostics](https://scholariq.org/topics/prenatal-screening-and-diagnostics/)
- [Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities](https://scholariq.org/topics/genetic-and-clinical-aspects-of-sex-determination-and-chromosomal-abnormalities/)

---
Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.