Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti-Reference-Cited by-同舟云学术

Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti

Published:2017-11 Issue:3 Volume:122 Page:140-144
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Dangouloff-Ros Volodia^ORCID,Hadj-Rabia Smail,Oliveira Santos Judite,Bal Elodie^ORCID,Desguerre Isabelle,Kossorotoff Manoelle,An Isabelle,Smahi Asma,Bodemer Christine,Munnich Arnold,Steffann Julie,Boddaert Nathalie^ORCID

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference20 articles.

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3. Systematic review of central nervous system anomalies in incontinentia pigmenti;Minić;Orphanet J. Rare Dis.,2013

4. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium;Smahi;Nature,2000

5. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations;Aradhya;Hum. Mol. Genet.,2001

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