Rapid Identification of Biallelic <b><i>SPTB</i></b> Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure-Reference-Cited by-同舟云学术

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Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure

Published:2020 Issue:1 Volume:11 Page:50-55
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Richmond Christopher M.,Campbell Sally,Foo Hee W.,Lunke Sebastian,Stark Zornitza,Moody Amanda,Bannister Elizabeth,Greenway Anthea,Brown Natasha

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al: A method and server for predicting damaging missense mutations. Nat Methods 7:248-249 (2010).

2. Agarwal AM, Nussenzveig RH, Reading NS, Patel JL, Sangle N, et al: Clinical utility of next-generation sequencing in the diagnosis of hereditary hemolytic anemias. Br J Haematol 174:806-814 (2016).

3. Christensen RD, Nussenzveig RH, Yaish HM, Henry E, Eggert LD, Agarwal AM: Causes of hemolysis in neonates with extreme hyperbilirubinemia. J Perinatol 34:616-619 (2014).

4. Christensen RD, Agarwal AM, Nussenzveig RH, Heikal N, Liew MA, Yaish HM: Evaluating eosin-5-maleimide binding as a diagnostic test for hereditary spherocytosis in newborn infants. J Perinatol 35:357-361 (2015).

5. Farnaes L, Hildreth A, Sweeney NM, Clark MM, Chowdhury S, et al: Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med 3:10 (2018).

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1. Genetic aetiologies of acute liver failure;Journal of Inherited Metabolic Disease;2024-03-18

2. Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea;Journal of Korean Medical Science;2024

3. Complications of Delayed Diagnosis and Challenges: Hereditary Spherocytosis with Hepatocellular Jaundice, a Case Report from Ethiopia;2023-09-20

4. Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB;Frontiers in Genetics;2023-09-18

5. Atypical Course of Hereditary Spherocytic Anemia With Severely Elevated Liver Enzymes;Indian Pediatrics;2023-04

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