Article
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
Blood - 21 Apr 2022
Kermasson Laëtitia, Churikov Dmitri, Awad Aya, Smoom Riham, Lainey Elodie, Touzot Fabien, Audebert-Bellanger Séverine, Haro Sophie, Roger Lauréline, Costa Emilia, Mouf Maload, Bottero Adriana, Oleastro Matias, Abdo Chrystelle, de Villartay Jean-Pierre, Géli Vincent, Tzfati Yehuda, Callebaut Isabelle, Danielian Silvia, Soares Gabriela, Kannengiesser Caroline, Revy Patrick
Abstract excerpt
Inherited bone marrow failure syndromes (IBMFSs) are a group of disorders typified by impaired production of 1 or several blood cell types. The telomere biology disorders dyskeratosis congenita (DC) and its severe variant, Høyeraal-Hreidarsson (HH) syndrome, are rare IBMFSs characterized by bone marrow failure, developmental defects, and various premature aging complications associated with critically short...
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