Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing-Reference-Cited by-同舟云学术

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing

Published:2022-01-04 Issue:3 Volume:101 Page:335-345
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Enomoto Yumi¹^ORCID,Yokoi Takayuki²,Tsurusaki Yoshinori¹,Murakami Hiroaki²,Tominaga Makiko²,Minatogawa Mari²,Abe‐Hatano Chihiro²,Kuroda Yukiko²,Ohashi Ikuko²,Ida Kazumi²,Shiiya Shizuka²,Kumaki Tatsuro²,Naruto Takuya¹^ORCID,Mitsui Jun³,Harada Noriaki⁴,Kido Yasuhiro⁵,Kurosawa Kenji¹²^ORCID

Affiliation:

1. Clinical Research Institute Kanagawa Children's Medical Center Yokohama Japan

2. Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan

3. Department of Neurology, Graduate School of Medicine The University of Tokyo Tokyo Japan

4. Department of Clinical Laboratory Kanagawa Children's Medical Center Yokohama Japan

5. Department of Pediatrics, Saitama Medical Center Dokkyo Medical University Koshigaya Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14103

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5. Genotype-phenotype correlations in Rubinstein-Taybi syndrome

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