Is interstitial 8p23 microdeletion responsible of 46, XY gonadal dysgenesis? One case report from birth to puberty-Reference-Cited by-同舟云学术

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Is interstitial 8p23 microdeletion responsible of 46, XY gonadal dysgenesis? One case report from birth to puberty

Published:2019-01-28 Issue:3 Volume:7 Page:e558
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Wagner‐Mahler Kathy¹²^ORCID,Kurzenne Jean‐Yves¹²,Gastaud Frederique²,Hoflack Marie²,Panaia Ferrari Patricia³^ORCID,Berard Etienne¹,Giuliano Fabienne⁴,Karmous‐Benailly Houda⁴,Moceri Pamela⁵^ORCID,Jouannelle Celine²,Bourcier Marine²,Robart Elise²,Morel Yves⁶

Affiliation:

1. Département de Pédiatrie Centre Hospitalier de Nice Nice France

2. Hôpitaux Pédiatriques de Nice CHU Lenval Nice France

3. Département de Biochimie Centre Hospitalier de Nice Nice France

4. Département de Génétique Centre Hospitalier de Nice Nice France

5. Département de Cardiologie Centre Hospitalier de Nice Nice France

6. Centre Hospitalier Universitaire de Lyon – HCL GH Est, Centre de Biologie et Pathologie Est Bron France

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.558

Reference48 articles.

1. Phenotypic Features, Androgen Receptor Binding, and Mutational Analysis in 278 Clinical Cases Reported as Androgen Insensitivity Syndrome

2. The role of a clinical score in the assessment of ambiguous genitalia

3. Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature

4. Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome

5. Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genomic technologies and the diagnosis of 46, XY differences of sex development;Andrology;2024-07-31

2. High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases;Journal of Translational Medicine;2024-07-09

3. A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1;Pediatric Research;2023-12-22

4. A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature;Genes;2023-08-16

5. Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development;Reproductive Biology and Endocrinology;2023-01-11

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