A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay-Reference-Cited by-同舟云学术

A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay

Published:2021-09-12 Issue:1 Volume:188 Page:259-268
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Odom John¹²^ORCID,Amin Hitha²³⁴,Gijavanekar Charul¹,Elsea Sarah H.¹^ORCID,Kralik Stephen²⁵,Chinen Javier⁶,Lin Yuezhen⁷,Yates Amber Meshell Mayfield²⁸,Mizerik Elizabeth¹²,Potocki Lorraine¹²,Scaglia Fernando¹²⁹^ORCID

Affiliation:

1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

2. Texas Children's Hospital Houston Texas USA

3. Cortica Care Irvine California USA

4. Section of Child Neurology and Neurodevelopmental Disabilities, Department of Pediatrics Baylor College of Medicine Houston Texas USA

5. Department of Radiology Baylor College of Medicine Houston Texas USA

6. Division of Allergy and Immunology, Department of Pediatrics Baylor College of Medicine Houston Texas USA

7. Division of Endocrinology, Department of Pediatrics Baylor College of Medicine Houston Texas USA

8. Division of Hematology/Oncology, Department of Pediatrics Baylor College of Medicine Houston Texas USA

9. Joint BCM‐CUHK Center of Medical Genetics Prince of Wales Hospital Shatin Hong Kong SAR

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62482

Reference27 articles.

1. Inherited Immunodeficiency: A New Association With Early-Onset Childhood Panniculitis

2. SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis

3. Isolated growth hormone deficiency presenting with recurrent hypoglycaemia in a toddler

4. Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers

5. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

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4. Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review;Frontiers in Pediatrics;2023-03-02

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