Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome-Reference-Cited by-同舟云学术

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Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome

Published:1994-12-01 Issue:4 Volume:53 Page:352-354
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Masuno Mitsuo,Imaizumi Kiyoshi,Kurosawa Kenji,Makita Yoshio,Petrij Fred,Dauwerse Hans G.,Breuning Martijn H.,Kuroki Yoshikazu

Publisher

Wiley

Subject

Genetics(clinical)

Reference11 articles.

1. (1990): The isolation of DNA probes from chromosome 16 for the diagnosis of polycystic kidney disease. In (eds): “Pathogenesis of Polycystic Kidney Disease.” Chicago: TP&T, pp 17-23.

2. Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16) (p13.3; p13.3)

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1. Rubinstein–Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning;Journal of Clinical Medicine;2024-09-02

2. Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome;Frontiers in Genetics;2023-06-21

3. Rubinstein-Taybi Syndrome;Atlas of Genetic Diagnosis and Counseling;2017

4. Rubinstein-Taybi Syndrome;Atlas of Genetic Diagnosis and Counseling;2016

5. Rubinstein-Taybi Syndrome;Atlas of Genetic Diagnosis and Counseling;2012

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