A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti-Reference-Cited by-同舟云学术

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A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

Published:2004-05 Issue:5 Volume:24 Page:384-388
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat. Diagn.

Author:

Steffann Julie,Raclin Valérie,Smahi Asmae,Woffendin Hayley,Munnich Arnold,Kenwrick Sue J.,Grebille Anne-Gaelle,Benachi Alexandra,Dumez Yves,Bonnefont Jean-Paul,Hadj-Rabia Smaïl

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Cited by 44 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. An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing;npj Genomic Medicine;2024-05-29

2. Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene;American Journal of Medical Genetics Part A;2024-03-27

3. Genetic Disorders of Pigmentation;Rook's Textbook of Dermatology;2024-03-19

4. The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti;Diagnostics;2023-03-30

5. Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation;Diagnostics;2022-07-14

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