Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
Por um escritor misterioso
Last updated 07 julho 2024
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://www.frontiersin.org/files/Articles/640992/fgene-12-640992-HTML/image_m/fgene-12-640992-g001.jpg)
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://www.frontiersin.org/files/Articles/1013874/fendo-14-1013874-HTML/image_m/fendo-14-1013874-t001.jpg)
Frontiers Syndromic forms of congenital hyperinsulinism
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://i1.rgstatic.net/publication/359819929_Genetic_Diagnosis_of_Rubinstein-Taybi_Syndrome_With_Multiplex_Ligation-Dependent_Probe_Amplification_MLPA_and_Whole-Exome_Sequencing_WES_Case_Series_With_a_Novel_CREBBP_Variant/links/62503f12d726197cfd46d42a/largepreview.png)
PDF) Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://www.ahajournals.org/cms/asset/5148e569-9a3f-402a-a0fb-d334c641918e/jah35739-fig-0001.png)
Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://www.frontiersin.org/files/Articles/609040/fgene-12-609040-HTML/image_m/fgene-12-609040-g002.jpg)
Frontiers Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://i1.rgstatic.net/publication/359062990_Genetic_and_Phenotypic_Spectrum_of_KBG_Syndrome_A_Report_of_13_New_Chinese_Cases_and_a_Review_of_the_Literature/links/62433da057084c718b744859/largepreview.png)
PDF) Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://i1.rgstatic.net/publication/333114862_Genetic_Mosaicism_in_a_Group_of_Patients_With_Cornelia_de_Lange_Syndrome/links/5cdcd0a1a6fdccc9ddb203d5/largepreview.png)
PDF) Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://www.researchgate.net/publication/359819929/figure/fig4/AS:1142590594383907@1649426234447/Chromatograms-of-confirmative-PCR-based-Sanger-sequencing-and-segregation-analysis_Q320.jpg)
PDF) Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://www.frontiersin.org/files/myhome%20article%20library/777882/777882_Thumb_400.jpg)
buccal mucosa - List of Frontiers' open access articles
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://onlinelibrary.wiley.com/cms/asset/d443f06f-93dc-4a83-88c7-29ee9b5b63dd/ajmg.a.v185.1.cover.jpg?trick=1700136821298)
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://www.frontiersin.org/files/myhome%20article%20library/445517/445517_Thumb_400.jpg)
buccal mucosa - List of Frontiers' open access articles
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://media.springernature.com/m685/springer-static/image/art%3A10.1007%2Fs00439-015-1542-9/MediaObjects/439_2015_1542_Fig3_HTML.gif)
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://www.frontiersin.org/files/myhome%20article%20library/541878/541878_Thumb_400.jpg)
buccal mucosa - List of Frontiers' open access articles
![Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family](https://media.springernature.com/m685/springer-static/image/art%3A10.1007%2Fs00439-015-1542-9/MediaObjects/439_2015_1542_Fig1_HTML.gif)
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Recomendado para você
-
Rubinstein-Taybi Syndrome 107 julho 2024
-
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™07 julho 2024
-
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF07 julho 2024
-
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library07 julho 2024
-
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes07 julho 2024
-
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library07 julho 2024
-
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes07 julho 2024
-
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics07 julho 2024
-
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library07 julho 2024
-
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics07 julho 2024
você pode gostar
-
Shikimori san x Gyaru - Kawaii dake ja Nai Shikimori-san Ep 907 julho 2024
-
2º Temporada de One Piece Dublado Anunciada07 julho 2024
-
Batman Day: 10 fatos curiosos sobre o Batman que você precisa saber07 julho 2024
-
Falaê Gigi - Blog07 julho 2024
-
Clicker Heros - Jogue Clicker Heros Jogo Online07 julho 2024
-
F1 - 2022 SAO PAULO GRAND PRIX - THURSDAY PRESS CONFERENCE07 julho 2024
-
Freddy Fazbears Pizza FNAF1 location (V2) - Download Free 3D model07 julho 2024
-
Você realmente conhece as melhores partes de Fairy Tail?07 julho 2024
-
Final Fantasy VII Remake Part 2 Development Will Not Be Impacted by Remote Working in the Long Term, Producer Says07 julho 2024
-
Sonic 1 Retold: Labyrinth Zone (Sprite Animation)07 julho 2024