De NovoMutation ofKAT6BGene Causing Atypical Say–Barber–Biesecker–Young–Simpson Syndrome or Genitopatellar Syndrome-Reference-Cited by-同舟云学术

De NovoMutation ofKAT6BGene Causing Atypical Say–Barber–Biesecker–Young–Simpson Syndrome or Genitopatellar Syndrome

Published:2017-02-07 Issue:2 Volume:36 Page:130-138
ISSN:1551-3815
Container-title:Fetal and Pediatric Pathology
language:en
Short-container-title:Fetal and Pediatric Pathology

Author:

Li Guoqiang¹²,Li Niu²,Li Juan³,Ding Yu³,Yu Tingting¹,Wang Xiumin²³,Wang Jian¹²

Affiliation:

1. Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China

2. Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China

3. Department of Endocrinology, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China

Publisher

Informa UK Limited

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/15513815.2017.1281364

Reference20 articles.

1. Identification of a Human Histone Acetyltransferase Related to Monocytic Leukemia Zinc Finger Protein

3. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

4. Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

5. Controversies in the Definition and Treatment of Idiopathic Short Stature (ISS)

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1. Clinical features and the genetic analysis of KAT6B-related diseases caused by a de novo mutation of the KAT6B gene c.621+1G>A;Asian Journal of Surgery;2022-02

2. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants;Genetics in Medicine;2020-08

3. KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders;Frontiers in Pediatrics;2020-04-23

4. Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome;American Journal of Case Reports;2019-02-10

5. Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?;Clinical Genetics;2018-01-25