SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS-Reference-Cited by-同舟云学术

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SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS

Published:2018-11-02 Issue:6 Volume:37 Page:404-410
ISSN:1551-3815
Container-title:Fetal and Pediatric Pathology
language:en
Short-container-title:Fetal and Pediatric Pathology

Author:

Li Xin¹,Cheng Qing¹,Li Niu²,Chang Guoying¹,Ding Yu¹,Li Juan¹,Shen Yiping³,Wang Jian²,Wang Xiumin¹

Affiliation:

1. Department of Endocrinology, 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 Laboratory Medicine, Boston Children's Hospital, Boston, MA, USA

Funder

Jin Lei Pediatric Endocrinology Growth Research Fund for Young Physicians

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/15513815.2018.1509406

Reference16 articles.

1. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly

2. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

3. RADIOGRAPHIC ATLAS OF SKELETAL DEVELOPMENT OF THE HAND AND WRIST

4. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

5. Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency

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1. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease;Molecular Genetics and Metabolism;2024-03

2. The Function of the NBAS Has Been Revealed: What about Its Multisystem Pathologies?;Russian Journal of Genetics;2023-04

3. The Function of the <i>NBAS</i> Has Been Revealed, Will the Same Happen with Its Multisystem Pathologies?;Генетика;2023-04-01

4. Liver involvement in neuroblastoma amplified sequence gene deficiency is not limited to acute injury: Fibrosis silently continues;Liver International;2021-08-26

5. Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants;Molecular Genetics and Metabolism;2021-06

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