Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis

Background Osteopetrosis is characterized by increased bone density and bone marrow cavity stenosis due to a decrease in the number of osteoclasts or the dysfunction of their differentiation and absorption properties usually caused by biallelic variants of the TCIRG1 and CLCN7 genes. Methods In this...

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Veröffentlicht in:	Molecular genetics & genomic medicine 2021-11, Vol.9 (11), p.e1815-n/a
Hauptverfasser:	Liang, Huanhuan, Li, Niu, Yao, Ru‐en, Yu, Tingting, Ding, Lixia, Chen, Jing, Wang, Jian
Format:	Artikel
Sprache:	eng
Schlagworte:	Abdomen Amino acids Anemia autosomal recessive osteopetrosis Biomedical materials Birth weight Bone density Bone marrow Bones cDNA sequencing Child, Preschool Children Chloride Channels - genetics CLCN7 Dehydrogenases Female Genes Genes, Recessive Genetics & Heredity Genotypes Hematology Hematopoietic stem cells Hemoglobin Humans Infant Laboratories Life Sciences & Biomedicine Male Mononucleosis Mutation Nonsense mutation novel variant Original Osteoclastogenesis Osteoclasts Osteopetrosis Osteopetrosis - genetics Osteopetrosis - pathology Patients Phosphatase Polymerase chain reaction Reverse transcription Science & Technology Splicing Stem cell transplantation Stem cells Stenosis Strabismus TCIRG1 Thrombocytopenia Transplantation Vacuolar Proton-Translocating ATPases - genetics Vertebrae X-rays
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