학술논문
The Largest Germline Heterozygous Deletion Encompassing Potocki–Shaffer and WAGR Syndromes Loci to Date: A Case Report.
Document Type
Article
Author
Source
Subject
*SYNDROMES
*GERM cells
*CHORIONIC villus sampling
*22Q11 deletion syndrome
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Language
ISSN
0174-304X
Abstract
2020, 157 (01): 23 6 Justice E. D., Barnum S. J., Kidd T. The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene. [5] We describe here a patient harboring the largest germline heterozygous deletion reported so far, including, among others, PSS and WAGR syndrome loci (MIM #601224 and MIM #194072). Keywords: Potocki-Schaffer syndrome; WAGR syndrome; contiguous gene deletion; array-CGH; oligohydramnios EN Potocki-Schaffer syndrome WAGR syndrome contiguous gene deletion array-CGH oligohydramnios 274 278 5 09/07/22 20220701 NES 220701 Conflict of Interest None declared. WAGR syndrome, array-CGH, Potocki-Schaffer syndrome, contiguous gene deletion, oligohydramnios. [Extracted from the article]