Chinese family with Blau syndrome: Mutated NOD2 allele transmitted from the father with de novo somatic and germ line mosaicism-Reference-Cited by-同舟云学术

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Chinese family with Blau syndrome: Mutated NOD2 allele transmitted from the father with de novo somatic and germ line mosaicism

Published:2020-09-02 Issue:11 Volume:47 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J. Dermatol.

Author:

Lin Yunting¹^ORCID,Zeng Chunhua¹^ORCID,Chen Xiaodan¹,Li Taolin¹,Liu Huazhen¹,Liu Hongsheng²,Hu Hao³,Liu Li¹^ORCID

Affiliation:

1. Department of Genetics and Endocrinology Guangzhou Women and Children’s Medical Center Guangzhou Medical University GuangzhouChina

2. Department of Radiology Guangzhou Women and Children’s Medical Center Guangzhou Medical University GuangzhouChina

3. Guangzhou Institute of Pediatrics Guangzhou Women and Children’s Medical Center Guangzhou Medical University Guangzhou China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.15563

Reference5 articles.

1. Blau syndrome revisited

2. CARD15 mutations in Blau syndrome

3. Somatic NOD2 mosaicism in Blau syndrome

4. Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to GonosomalNOD2Mosaicism

5. Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family;Calcified Tissue International;2023-06-06

2. Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets;Calcified Tissue International;2021-09-06

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