Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference19 articles.
1. A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?;Behmel;Hum. Genet.,1984
2. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature;Cottereau;Am. J. Med. Genet. C Semin. Med. Genet.,2013
3. A new X-linked mental retardation-overgrowth syndrome;Golabi;Am. J. Med. Genet.,1984
4. Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome;Kehrer;Prenat. Diagn.,2016
5. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method;Livak;Methods,2001
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1. Simpson–Golabi–Behmel syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-05-20
2. A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing;Scientific Reports;2023-08-08
3. An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant;American Journal of Medical Genetics Part A;2023-03-15
4. A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragment at Xq26.2 inherited from mother;Medicine;2022-04-22
5. Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review;Molecular Genetics & Genomic Medicine;2021-07-22
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