Manifestations of thrombospondin type‐1 domain‐containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis-Reference-Cited by-同舟云学术

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Manifestations of thrombospondin type‐1 domain‐containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis

Published:2021-02-11 Issue:5 Volume:185 Page:1598-1601
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Al Rawi Wafaa N.¹^ORCID,Ibrahim Fatima H.¹,El Nakeib Omar A. S.¹,Al Zidgali Faisal M.¹

Affiliation:

1. Department of Pediatrics SSMC Hospital Abu Dhabi United Arab Emirates

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62108

Reference4 articles.

1. A recessive truncating variant in thrombospondin‐1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family

2. Abstract 14844: Thsd‐1 determines plaque phenotype by regulating vascular permeability and intraplaque haemorrhaging;Dekker W. K.;Circulation,2011

3. THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage

4. Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

Cited by 1 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. Resolving fetal hydrops – A rare entity;European Journal of Medical Genetics;2023-12

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