A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant.

doi:10.24953/turkjped.2021.4855

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Article

A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant.

The Turkish journal of pediatrics - 1 Jan 2022

Deliloğlu Burak, Tüfekçi Özlem, Tüzün Funda, Aykut Ayça, Ceylan Emine İpek, Durmaz Asude, Yılmaz Şebnem, Duman Nuray, Özkan Hasan, Ören Hale

Abstract excerpt

BACKGROUND: Hereditary bone marrow failure syndromes are a category of biologically different syndromes that can cause cytopenia in at least one hematopoietic cell lineage. CASE: We present a 29-week-old male infant who had a low Apgar Score, advanced delivery room resuscitation, widespread petechial rash, and ecchymoses at birth, without any dysmorphic features. Initial laboratory tests revealed bicytopenia...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36082647
DOI: 10.24953/turkjped.2021.4855

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