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-Reference-Cited by-同舟云学术

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

Published:2018-07-28 Issue:9 Volume:176 Page:1996-2003
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Abdelrahman Hanadi A.¹,Al‐Shamsi Aisha²,John Anne¹,Hertecant Jozef²,Lootah Ali²,Ali Bassam R.¹³,Al‐Gazali Lihadh¹^ORCID

Affiliation:

1. Department of Pathology, College of Medicine and Heath SciencesUnited Arab Emirates University Al‐Ain United Arab Emirates

2. Department of PaediatricsTawam Hospital Al‐Ain United Arab Emirates

3. Zayed Center for Health SciencesUnited Arab Emirates University Al‐Ain United Arab Emirates

Funder

United Arab Emirates University

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.40424

Reference19 articles.

1. Etiology of non-immune hydrops fetalis: An update

2. Non-immune hydrops fetalis: A short review of etiology and pathophysiology

3. Etiology of nonimmune hydrops fetalis: A systematic review

4. Genetic marking of hematopoietic stem and endothelial cells: Identification of the Tmtsp gene encoding a novel cell surface protein with the thrombospondin‐1 domain;Dc W.;Blood,2012

5. DiANNA: a web server for disulfide connectivity prediction

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