Hexasomy of the Prader–Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report-Reference-Cited by-同舟云学术

Hexasomy of the Prader–Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report

Published:2011-07 Issue:4 Volume:54 Page:e446-e450
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Kraoua Lilia,Chaabouni Myriam,Ewers Elisabeth,Chelly Imen,Ouertani Ines,Ben Jemaa Lamia,Maazoul Faouzi,Liehr Thomas,Chaabouni Habiba

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference29 articles.

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1. Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism;Frontiers in Genetics;2024-04-16

2. Molecular and behavioral consequences of Ube3a gene overdosage in mice;JCI Insight;2022-09-22

3. Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature;Molecular Cytogenetics;2018-02-05

4. Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization;Scientific Reports;2017-09-04

5. Genetic variation in regulatory DNA elements: the case ofOCA2transcriptional regulation;Pigment Cell & Melanoma Research;2014-02-17