A novel de novo PGM3 pathogenic variant identified in an infant presenting with abnormal TREC assay and severe neutropenia

被引：0

作者：

Jalazo, Elizabeth ^{[1
]}

Felton, Thomas ^{[2
]}

Winslow, Andrew ^{[3
]}

Montgomery, Nathan ^{[4
]}

Weimer, Eric ^{[4
]}

Moran, Timothy ^{[3
]}

Spence, J. ^{[3
]}

机构：

[1] UNC Sch Med, Dept Pediat, Div Genet & Metab, Chapel Hill, NC USA

[2] UNC Hosp, Chapel Hill, NC USA

[3] UNC Sch Med, Chapel Hill, NC USA

[4] Univ N Carolina, Chapel Hill, NC 27515 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2021年 / 132卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

eP281

引用

页码：S178 / S178

页数：1

共 12 条

[1] A Novel De Novo PGM3 Pathogenic Mutation Identified in an Infant Presenting with Abnormal TREC Assay and Severe Neutropenia
Winslow, Andrew
Jalazo, Elizabeth
Felton, Thomas
Weimer, Eric
Montgomery, Nathan
Winstead, Michael
Moran, Timothy
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2021, 147 (02) : AB70 - AB70
[2] Novel Pathogenic De Novo INS p.T97P Variant Presenting With Severe Neonatal DKA
Lal, Rayhan A.
Moeller, Hannah P.
Thomson, Ella A.
Horton, Timothy M.
Lee, Sooyeon
Freeman, Raquel
Prahalad, Priya
Poon, Ada S. Y.
Annes, Justin P.
ENDOCRINOLOGY, 2022, 163 (02)
[3] Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development
Marketa Wayhelova
Vladimira Vallova
Petr Broz
Aneta Mikulasova
Dominika Loubalova
Hana Filkova
Jan Smetana
Klara Drabova
Renata Gaillyova
Petr Kuglik
Journal of Human Genetics, 2022, 67 : 209 - 214
[4] Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development
Wayhelova, Marketa
Vallova, Vladimira
Broz, Petr
Mikulasova, Aneta
Loubalova, Dominika
Filkova, Hana
Smetana, Jan
Drabova, Klara
Gaillyova, Renata
Kuglik, Petr
JOURNAL OF HUMAN GENETICS, 2022, 67 (04) : 209 - 214
[5] A NOVEL PATHOGENIC VARIANT OF G6PC3 GENE PRESENTING AS CYCLIC NEUTROPENIA IN A PEDIATRIC PATIENT
Bruni, C. M.
De la Rua, W.
Sadre, S.
Nestor, J. M.
Scarano, M.
Kaplan, J.
Ahmed, R.
JOURNAL OF INVESTIGATIVE MEDICINE, 2022, 70 (04) : 1195 - 1196
[6] A Novel Pathogenic Variant of G6PC3 Gene Presenting As Cyclic Neutropenia in a Pediatric Patient
Bruni, Christian M.
de la Rua, Wendy
Sadre, Sara Y.
Nestor, Jennifer M.
Ahmed, Rafat
BLOOD, 2021, 138
[7] A NOVEL PATHOGENIC VARIANT OF G6PC3 GENE PRESENTING AS CYCLIC NEUTROPENIA IN A PEDIATRIC PATIENT
Bruni, Christian
De la Rua, Wendy
Sadre, Sara
Nestor, Jennifer
Scarano, Maria
Kaplan, Julie
Ahmed, Rafat
PEDIATRIC BLOOD & CANCER, 2022, 69
[8] De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay
Ejaz, Resham
Lionel, Anath C.
Blaser, Susan
Walker, Susan
Scherer, Stephen W.
Babul-Hirji, Riyana
Marshall, Christian R.
Stavropoulos, Dimitri J.
Chitayat, David
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (10) : 2725 - 2730
[9] Novel De Novo INS P.T97P Variant Presenting with Severe Neonatal DKA
Lal, Rayhan
Moeller, Hannah P.
Freeman, Raquel
Prahalad, Priya
Annes, Justin P.
DIABETES, 2020, 69
[10] A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS
Tabaku, Mirela
Tomori, Sonila
Cullufi, Paskal
Dervishi, Ermira
Paknia, Omid
Bauer, Peter
MOLECULAR GENETICS AND METABOLISM REPORTS, 2022, 33

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