Nabais Sa-de Vries Syndrome and Thalassemia: An Undiscovered Concurrence of <i>SPOP</i> and <i>HBB</i> Genetic Mutation-Reference-Cited by-同舟云学术

Nabais Sa-de Vries Syndrome and Thalassemia: An Undiscovered Concurrence of SPOP and HBB Genetic Mutation

Published:2024-04-30 Issue:1 Volume:31 Page:14-19
ISSN:2233-5250
Container-title:Clinical Pediatric Hematology-Oncology
language:en
Short-container-title:Clin Pediatr Hematol Oncol

Author:

Alam Muhammad Matloob¹^ORCID,Alathaibi Abdulrhman¹,Alasmari Badriah Gharamah²,Aljabri Mohammad³,Kashif Muhammad⁴,Matloob Riffat⁵,Selim Mustafa Mohamed¹⁶

Affiliation:

1. Department of Hematology/Oncology, Alhada Armed Forces Hospital, Taif, Saudi Arabia

2. Department of Pediatric, Armed Forces Hospital, Southern Region, Saudi Arabia

3. Department of Pediatric, Alhada Armed Forces Hospital, Taif, Saudi Arabia

4. Department of Laboratory, Alhada Armed Forces Hospital, Taif, Saudi Arabia

5. Aga Khan University Hospital (Alumni), Karachi, Pakistan

6. National Cancer Institute (NCI), Cairo University, Cairo, Egypt

Publisher

The Korean Society of Pediatric Hematology-Oncology

Link

https://pdf.medrang.co.kr/CPHO/2024/031/CPHO031-01-04.pdf

Reference12 articles.

1. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

2. Online Mendelian Inheritance in Man. Nabais Sa-De Vries syn-drome, type 1; Nsdvs1. Johns Hopkins University, 2020. (Accessed July 4, 2023, https://www.omim.org/entry/618828).

3. Online Mendelian Inheritance in Man. Nabais Sa-De Vries syn-drome, type 2; Nsdvs2. Johns Hopkins University, 2020. (Accessed July 4, 2023, https://www.omim.org/entry/618829).

4. Nabais Sa‐de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report

5. Functional analysis of Cullin 3 E3 ligases in tumorigenesis