A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia

Journal article

Peer reviewed

Steven V Lord, Joaquin E Jimenez, Zachary A Kroeger, Cory S Patrick, Isalis Sanchez-Pena, Edward Ziga, Guney Bademci and Mustafa Tekin

Clinical dysmorphology, Vol.27(1), pp.9-11

2018-01

PMID: 29200407

Abstract

Thrombocytopenia - genetics

MDS1 and EVI1 Complex Locus Protein - metabolism

Humans

African Americans

Child, Preschool

Ulna - abnormalities

Radius - abnormalities

MDS1 and EVI1 Complex Locus Protein - genetics

Child

Synostosis - genetics

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Citation topics: 1 Clinical & Life Sciences; 1.103 Blood Disorders; 1.103.155 Acute Myeloid Leukemia
Web Of Science research areas: Genetics & Heredity
ESI research areas: Clinical Medicine

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Title: A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia
Creators: Steven V Lord - aGenomic Medicine ProgrambDr John T. Macdonald Foundation Department of Human GeneticscDivision of Pediatric Hematology and Oncology, Department of PediatricsdJohn P. Hussman Institute for Human GenomicseDepartment of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida, USA
Joaquin E Jimenez
Zachary A Kroeger
Cory S Patrick
Isalis Sanchez-Pena
Edward Ziga
Guney Bademci
Mustafa Tekin
Publication Details: Clinical dysmorphology, Vol.27(1), pp.9-11
Publisher: England
Academic Unit: Miller School of Medicine; UMMG Department of Pediatrics; UMMG Dept of Human Genetics - Clinical and Translational Genetics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation); UMMG Dept of Pediatrics - Hematology/Oncology/Stem Cell Transp
Language: English
Resource Type: Journal article
PMID: 29200407
Record Identifier: 991031577325902976